name: Molecular pathology procedure, Level 2 - Mediator complex subunit 12 (MED12) gene analysis for R961W and N1007S variants


name: Molecular pathology procedure, Level 2 - Mediator complex subunit 12 (MED12) gene analysis for R961W variant


name: Molecular pathology procedure, Level 2 - Mediator complex subunit 12 (MED12) gene analysis for common variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded 12S RNA (MT-RNR1) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded 12S RNA (MT-RNR1) gene analysis for detection of m.1494C>T variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded 12S RNA (MT-RNR1) gene analysis for detection of m.1555A>G and m.1494C>T variants


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded 12S RNA (MT-RNR1) gene analysis for detection of m.1555A>G variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded ATP synthase 6 (MT-ATP6) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded ATP synthase 6 (MT-ATP6) gene analysis for detection of m.8993T>C variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded ATP synthase 6 (MT-ATP6) gene analysis for detection of m.8993T>G and m.8993T>C variants


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded ATP synthase 6 (MT-ATP6) gene analysis for detection of m.8993T>G variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded NADH dehydrogenase 4, mitochondrially encoded NADH dehydrogenase 6 (MT-ND4, MT-ND6) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded NADH dehydrogenase 4, mitochondrially encoded NADH dehydrogenase 6 (MT-ND4, MT-ND6) gene analysis for detection of m.11778G>A variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded NADH dehydrogenase 4, mitochondrially encoded NADH dehydrogenase 6 (MT-ND4, MT-ND6) gene analysis for detection of m.11778G>A, m.3460G>A, and m.14484T>C variants


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded NADH dehydrogenase 4, mitochondrially encoded NADH dehydrogenase 6 (MT-ND4, MT-ND6) gene analysis for detection of m.14484T>C variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded NADH dehydrogenase 4, mitochondrially encoded NADH dehydrogenase 6 (MT-ND4, MT-ND6) gene analysis for detection of m.3460G>A variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA leucine 1 [UUA/G] (MT-TL1) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA leucine 1 [UUA/G] (MT-TL1) gene analysis for detection of m.3243A>G variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA leucine 1 [UUA/G], mitochondrially encoded NADH dehydrogenase 5 (MT-TL1 MT-ND5) gene analysis for detection of m.13513G>A variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA leucine 1 [UUA/G], mitochondrially encoded NADH dehydrogenase 5 (MT-TL1 MT-ND5) gene analysis for detection of m.3243A>G variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA leucine 1 [UUA/G], mitochondrially encoded NADH dehydrogenase 5 (MT-TL1 MT-ND5) gene analysis for detection of m.3243A>G, m.3271T>C, m.3252A>G, and m.13513G>A variants


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA leucine 1 [UUA/G], mitochondrially encoded NADH dehydrogenase 5 (MT-TL1 MT-ND5) gene analysis for detection of m.3252A>G variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA leucine 1 [UUA/G], mitochondrially encoded NADH dehydrogenase 5 (MT-TL1 MT-ND5) gene analysis for detection of m.3271T>C variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA lysine (MT-TK) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA lysine (MT-TK) gene analysis for detection of m.8344A>G and m.8356T>C variants


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA lysine (MT-TK) gene analysis for detection of m.8344A>G variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA lysine (MT-TK) gene analysis for detection of m.8356T>C variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA serine 1 [UCN], mitochondrially encoded 12S RNA (MT-TS1, MT-RNR1) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA serine 1 [UCN], mitochondrially encoded 12S RNA (MT-TS1, MT-RNR1) gene analysis for detection of m.1555A>G variant


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA serine 1 [UCN], mitochondrially encoded 12S RNA (MT-TS1, MT-RNR1) gene analysis for detection of m.7445A>G and m.1555A>G variants


name: Molecular pathology procedure, Level 2 - Mitochondrially encoded tRNA serine 1 [UCN], mitochondrially encoded 12S RNA (MT-TS1, MT-RNR1) gene analysis for detection of m.7445A>G variant


name: Molecular pathology procedure, Level 2 - MutY homolog (E. coli) (MUTYH) gene analysis for detection of G382D variant


name: Molecular pathology procedure, Level 2 - MutY homolog (E. coli) (MUTYH) gene analysis for detection of Y165C and G382D variants


name: Molecular pathology procedure, Level 2 - MutY homolog (E. coli) (MUTYH) gene analysis for detection of Y165C variant


name: Molecular pathology procedure, Level 2 - MutY homolog (E. coli) (MUTYH) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 2 - NPM1/ALK (t(2;5)) translocation analysis


name: Molecular pathology procedure, Level 2 - Nucleotide-binding oligomerization domain containing 2 (NOD2) gene analysis for SNP 12 variant


name: Molecular pathology procedure, Level 2 - Nucleotide-binding oligomerization domain containing 2 (NOD2) gene analysis for SNP 13 variant


name: Molecular pathology procedure, Level 2 - Nucleotide-binding oligomerization domain containing 2 (NOD2) gene analysis for SNP 8 variant


name: Molecular pathology procedure, Level 2 - Nucleotide-binding oligomerization domain containing 2 (NOD2) gene analysis for SNP 8, SNP 12, and SNP 13 variants


name: Molecular pathology procedure, Level 2 - Nucleotide-binding oligomerization domain containing 2 (NOD2) gene analysis for common variant


name: Molecular pathology procedure, Level 2 - PAX8/PPARG (t(2;3) (q13;p25)) translocation analysis


name: Molecular pathology procedure, Level 2 - Phosphorylase, glycogen, muscle (PYGM) gene analysis for detection of G205S variant


name: Molecular pathology procedure, Level 2 - Phosphorylase, glycogen, muscle (PYGM) gene analysis for detection of R50X and G205S variants


name: Molecular pathology procedure, Level 2 - Phosphorylase, glycogen, muscle (PYGM) gene analysis for detection of R50X variant


name: Molecular pathology procedure, Level 2 - Phosphorylase, glycogen, muscle (PYGM) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 2 - Preferentially expressed antigen in melanoma (PRAME) expression analysis


name: Molecular pathology procedure, Level 2 - Protease, serine, 1 [trypsin 1] (PRSS1) gene analysis for detection of A16V variant


name: Molecular pathology procedure, Level 2 - Protease, serine, 1 [trypsin 1] (PRSS1) gene analysis for detection of N29I variant


name: Molecular pathology procedure, Level 2 - Protease, serine, 1 [trypsin 1] (PRSS1) gene analysis for detection of N29I, A16Vm, and R122H variants


name: Molecular pathology procedure, Level 2 - Protease, serine, 1 [trypsin 1] (PRSS1) gene analysis for detection of R122H variant


name: Molecular pathology procedure, Level 2 - Protease, serine, 1 [trypsin 1] (PRSS1) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 2 - Qualitative DEK/NUP214 (t(6;9)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative ETV6/RUNX1 (t(12;21)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative EWSR1/ATF1 (t(12;22)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative EWSR1/ERG (t(21;22)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative EWSR1/FLI1 (t(11;22)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative EWSR1/WT1 (t(11;22)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative FIP1L1/PDGFRA (del[4q12]) gene analysis


name: Molecular pathology procedure, Level 2 - Qualitative FOXO1/PAX3 (t(2;13)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative FUS/DDIT3 (t(12;16)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative IGH@/BCL2 (t(14;18)) translocation analysis for detection of single major breakpoint region breakpoint


name: Molecular pathology procedure, Level 2 - Qualitative IGH@/BCL2 (t(14;18)) translocation analysis for detection of single minor cluster region breakpoint


name: Molecular pathology procedure, Level 2 - Qualitative MLL/AFF1 (t(4;11)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative MLL/MLLT3 (t(9;11)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative RUNX1/RUNX1T1 (t(8;21)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative SS18/SSX1 (t(X;18)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative SS18/SSX2 (t(X;18)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative DEK/NUP214 (t(6;9)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative ETV6/RUNX1 (t(12;21)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative EWSR1/ATF1 (t(12;22)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative EWSR1/ERG (t(21;22)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative EWSR1/FLI1 (t(11;22)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative EWSR1/WT1 (t(11;22)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative FIP1L1/PDGFRA (del[4q12]) gene analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative FOXO1/PAX3 (t(2;13)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative FOXO1/PAX7 (t(2;13)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative FUS/DDIT3 (t(12;16)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative IGH@/BCL2 (t(14;18)) translocation analysis for detection of single major breakpoint region breakpoint


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative IGH@/BCL2 (t(14;18)) translocation analysis for detection of single minor region cluster


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative MLL/AFF1 (t(4;11)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative MLL/MLLT3 (t(9;11)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative RUNX1/RUNX1T1 (t(8;21)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative SS18/SSX1 (t(X;18)) translocation analysis


name: Molecular pathology procedure, Level 2 - Qualitative and quantitative SS18/SSX2 (t(X;18)) translocation analysis


name: Molecular pathology procedure, Level 2 - Von Willebrand factor (VWF) gene analysis for detection of R816W variant


name: Molecular pathology procedure, Level 2 - Von Willebrand factor (VWF) gene analysis for detection of R854Q variant


name: Molecular pathology procedure, Level 2 - Von Willebrand factor (VWF) gene analysis for detection of T791M variant


name: Molecular pathology procedure, Level 2 - Von Willebrand factor (VWF) gene analysis for detection of T791M, R816W, and R854Q variants


name: Molecular pathology procedure, Level 2 - Von Willebrand factor (VWF) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 3 - Chromosome 18q allelic imbalance assessment of microsatellite marker D18S55


name: Molecular pathology procedure, Level 3 - Chromosome 18q allelic imbalance assessment of microsatellite marker D18S58


name: Molecular pathology procedure, Level 3 - Chromosome 18q allelic imbalance assessment of microsatellite marker D18S6


name: Molecular pathology procedure, Level 3 - Chromosome 18q allelic imbalance assessment of microsatellite marker D18S61


name: Molecular pathology procedure, Level 3 - Chromosome 18q allelic imbalance assessment of microsatellite marker D18S69


name: Molecular pathology procedure, Level 3 - Chromosome 18q allelic imbalance assessment of microsatellite markers D18S55, D18S58, D18S61, D18S64, and D18S69


name: Molecular pathology procedure, Level 3 - Chromosome 1p-/19q- deletion analysis


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of 30-kb deletion variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of G110VfsX21 variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of I172N variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of IVS2-13G variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of IVS2-13G, P30L, I172N, exon 6 mutation cluster (I235N, V236E, M238K), V281L, L307FfsX6, Q318X, R356W, P453S, G110VfsX21, and 30-kb deletion variants


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of L307FfsX6 variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of P30L variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of P453S variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of Q318X variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of R356W variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of V281L variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 3 - Cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene analysis for detection of exon 6 mutation cluster (I235N, V236E, M238K)


name: Molecular pathology procedure, Level 3 - Gene analysis for detection of 2-10 somatic variants


name: Molecular pathology procedure, Level 3 - Gene analysis for detection of T-cell receptor gene rearrangement


name: Molecular pathology procedure, Level 3 - Gene analysis for detection of deletion variant of 1 exon


name: Molecular pathology procedure, Level 3 - Gene analysis for detection of duplication and deletion variants of 1 exon


name: Molecular pathology procedure, Level 3 - Gene analysis for detection of duplication variant of 1 exon


name: Molecular pathology procedure, Level 3 - Gene analysis for detection of immunoglobulin receptor gene rearrangement


name: Molecular pathology procedure, Level 3 - Gene analysis for detection of loss of heterozygosity (LOH)


name: Molecular pathology procedure, Level 3 - Gene analysis for detection of uniparental disomy (UDP)


name: Molecular pathology procedure, Level 3 - IGH@/BCL2 (t(14;18)) translocation analysis for major breakpoint region (MBR) and minor cluster region (MCR) breakpoints


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of A744S variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of E148Q variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of E148Q, P369S, F479L, M680I, I692del, M694V, M694I, K695R, V726A, A744S, and R761H variants


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of F479L variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of I692del variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of K695R variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of M680I variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of M694I variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of M694V variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of P369S variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of R761H variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of V726A variant


name: Molecular pathology procedure, Level 3 - Mediterranean fever (MEFV) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 3 - Qualitative COL1A1/PDGFB (t(17;22)) translocation analysis for multiple breakpoints


name: Molecular pathology procedure, Level 3 - Qualitative and quantitative COL1A1/PDGFB (t(17;22)) translocation analysis for multiple breakpoints


name: Molecular pathology procedure, Level 3 - Receptor 1/progesterone receptor (ESR1/PGR) ratio


name: Molecular pathology procedure, Level 3 - T cell antigen receptor, delta (TCD@) gene rearrangement analysis for detection of abnormal clonal population


name: Molecular pathology procedure, Level 3 - Uniparental disomy (UPD) short tandem repeat (STR) analysis


name: Molecular pathology procedure, Level 4 - Angiogenin, ribonuclease, RNase A family, 5 (ANG) full gene sequence analysis


name: Molecular pathology procedure, Level 4 - Aristaless-related homeobox (ARX) deletion analysis


name: Molecular pathology procedure, Level 4 - Aristaless-related homeobox (ARX) deletion and duplication analysis


name: Molecular pathology procedure, Level 4 - Aristaless-related homeobox (ARX) duplication analysis


name: Molecular pathology procedure, Level 4 - Carboxyl ester lipase (bile salt-stimulated lipase) (CEL) targeted sequence analysis of exon 11


name: Molecular pathology procedure, Level 4 - Carboxyl ester lipase (bile salt-stimulated lipase) (CEL) targeted sequence analysis of exon 11 for detection of c.1686delT variant


name: Molecular pathology procedure, Level 4 - Carboxyl ester lipase (bile salt-stimulated lipase) (CEL) targeted sequence analysis of exon 11 for detection of c.1785delC and c.1686delT variants


name: Molecular pathology procedure, Level 4 - Carboxyl ester lipase (bile salt-stimulated lipase) (CEL) targeted sequence analysis of exon 11 for detection of c.1785delC variant


name: Molecular pathology procedure, Level 4 - Catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1) targeted sequence analysis


name: Molecular pathology procedure, Level 4 - Catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1) targeted sequence analysis of exon 3


name: Molecular pathology procedure, Level 4 - Coagulation factor VIII (F8) inversion analysis of intron 1 and intron 22A


name: Molecular pathology procedure, Level 4 - Coagulation factor XII (F12) targeted sequence analysis of exon 9


name: Molecular pathology procedure, Level 4 - DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A) targeted sequence analysis


name: Molecular pathology procedure, Level 4 - DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A) targeted sequence analysis of exon 23


name: Molecular pathology procedure, Level 4 - DNA sequence analysis of exon


name: Molecular pathology procedure, Level 4 - Deleted in azoospermia and sex determining region Y (DAZ/SRY) gene analysis for detection of AZFa deletion


name: Molecular pathology procedure, Level 4 - Deleted in azoospermia and sex determining region Y (DAZ/SRY) gene analysis for detection of AZFa, AZFb, AZFc, and AZFd deletions


name: Molecular pathology procedure, Level 4 - Deleted in azoospermia and sex determining region Y (DAZ/SRY) gene analysis for detection of AZFb deletion


name: Molecular pathology procedure, Level 4 - Deleted in azoospermia and sex determining region Y (DAZ/SRY) gene analysis for detection of AZFc deletion


name: Molecular pathology procedure, Level 4 - Deleted in azoospermia and sex determining region Y (DAZ/SRY) gene analysis for detection of AZFd deletion


name: Molecular pathology procedure, Level 4 - Deleted in azoospermia and sex determining region Y (DAZ/SRY) gene analysis for detection of common deletion


name: Molecular pathology procedure, Level 4 - Epithelial cell adhesion molecule (EPCAM) deletion analysis


name: Molecular pathology procedure, Level 4 - Epithelial cell adhesion molecule (EPCAM) deletion and duplication analysis


name: Molecular pathology procedure, Level 4 - Epithelial cell adhesion molecule (EPCAM) duplication analysis


name: Molecular pathology procedure, Level 4 - Fibroblast growth factor receptor 3 (FGFR3) targeted sequence analysis


name: Molecular pathology procedure, Level 4 - Fibroblast growth factor receptor 3 (FGFR3) targeted sequence analysis of exon 7


name: Molecular pathology procedure, Level 4 - Gap junction protein, beta 1 (GJB1) full gene sequence analysis


name: Molecular pathology procedure, Level 4 - Gene analysis for detection of duplication and deletion variants


name: Molecular pathology procedure, Level 4 - Gene analysis using mutation scanning method


name: Molecular pathology procedure, Level 4 - Guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) for detection of Q209 variant


name: Molecular pathology procedure, Level 4 - Guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) for detection of R183 and Q209 variants


name: Molecular pathology procedure, Level 4 - Guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) for detection of R183 variant


name: Molecular pathology procedure, Level 4 - Guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) for detection of common variant


name: Molecular pathology procedure, Level 4 - Human erythrocyte antigen gene analyses for detection of common variant


name: Molecular pathology procedure, Level 4 - Killer cell immunoglobulin-like receptor (KIR) genotyping of KIR family genes


name: Molecular pathology procedure, Level 4 - MHC class I polypeptide-related sequence A (MICA) for detection of *001 and *002 variants


name: Molecular pathology procedure, Level 4 - MHC class I polypeptide-related sequence A (MICA) for detection of *001 variant


name: Molecular pathology procedure, Level 4 - MHC class I polypeptide-related sequence A (MICA) for detection of *002 variant


name: Molecular pathology procedure, Level 4 - MHC class I polypeptide-related sequence A (MICA) for detection of common variant


name: Molecular pathology procedure, Level 4 - Melanocortin 4 receptor (MC4R) full gene sequence analysis


name: Molecular pathology procedure, Level 4 - Mitochondrially encoded 12S RNA (MT-RNR1) full gene sequence analysis


name: Molecular pathology procedure, Level 4 - Mitochondrially encoded tRNA serine 1 (MT-TS1) full gene sequence analysis


name: Molecular pathology procedure, Level 4 - NHL repeat containing 1 (NHLRC1) full gene sequence analysis


name: Molecular pathology procedure, Level 4 - Norrie disease [pseudoglioma] (NDP) deletion analysis


name: Molecular pathology procedure, Level 4 - Norrie disease [pseudoglioma] (NDP) deletion and duplication analysis


name: Molecular pathology procedure, Level 4 - Norrie disease [pseudoglioma] (NDP) duplication analysis


name: Molecular pathology procedure, Level 4 - Paired-like homeobox 2b (PHOX2B) deletion analysis


name: Molecular pathology procedure, Level 4 - Paired-like homeobox 2b (PHOX2B) deletion and duplication analysis


name: Molecular pathology procedure, Level 4 - Paired-like homeobox 2b (PHOX2B) duplication analysis


name: Molecular pathology procedure, Level 4 - Phospholamban (PLN) full gene sequence analysis


name: Molecular pathology procedure, Level 4 - Rh blood group, D antigen (RHD) deletion analysis of exon 4


name: Molecular pathology procedure, Level 4 - Rh blood group, D antigen (RHD) deletion analysis of exon 5


name: Molecular pathology procedure, Level 4 - Rh blood group, D antigen (RHD) deletion analysis of exon 7


name: Molecular pathology procedure, Level 4 - Rh blood group, D antigen (RHD) deletion analysis of exons 4, 5, 7, and pseudogene


name: Molecular pathology procedure, Level 4 - Rh blood group, D antigen (RHD) deletion analysis of pseudogene


name: Molecular pathology procedure, Level 4 - Rh blood group, D antigen (RHD) deletion analysis performed on cell-free fetal DNA in maternal blood


name: Molecular pathology procedure, Level 4 - SH2 domain containing 1A (SH2D1A) deletion analysis


name: Molecular pathology procedure, Level 4 - SH2 domain containing 1A (SH2D1A) deletion and duplication analysis


name: Molecular pathology procedure, Level 4 - SH2 domain containing 1A (SH2D1A) duplication analysis


name: Molecular pathology procedure, Level 4 - Twist homolog 1 [Drosophila] (TWIST1) deletion analysis


name: Molecular pathology procedure, Level 4 - Twist homolog 1 [Drosophila] (TWIST1) deletion and duplication analysis


name: Molecular pathology procedure, Level 4 - Twist homolog 1 [Drosophila] (TWIST1) duplication analysis


name: Molecular pathology procedure, Level 4 - Ubiquitin-like modifier activating enzyme 1 (UBA1) targeted sequence analysis


name: Molecular pathology procedure, Level 4 - Ubiquitin-like modifier activating enzyme 1 (UBA1) targeted sequence analysis of exon 15


name: Molecular pathology procedure, Level 4 - Von Hippel-Lindau tumor suppressor (VHL) deletion analysis


name: Molecular pathology procedure, Level 4 - Von Hippel-Lindau tumor suppressor (VHL) deletion and duplication analysis


name: Molecular pathology procedure, Level 4 - Von Hippel-Lindau tumor suppressor (VHL) duplication analysis


name: Molecular pathology procedure, Level 4 - Von Willebrand factor (VWF) targeted sequence analysis


name: Molecular pathology procedure, Level 4 - Von Willebrand factor (VWF) targeted sequence analysis of exon 28


name: Molecular pathology procedure, Level 5 - Acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS) targeted sequence analysis


name: Molecular pathology procedure, Level 5 - Acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS) targeted sequence analysis of exons 5 and 6


name: Molecular pathology procedure, Level 5 - Aquaporin 2 [collecting duct] (AQP2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Arginine vasopressin receptor 2 (AVPR2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Aristaless related homeobox (ARX) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Bardet-Biedl syndrome 10 (BBS10) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Biotinidase (BTD) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - CD40 ligand (CD40LG) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Carnitine palmitoyltransferase 2 (CPT2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Caveolin 3 (CAV3) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Chromosome 10 open reading frame 2 (C10orf2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Clarin 1 (CLRN1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Cone-rod homeobox (CRX) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Cyclin-dependent kinase inhibitor 2A (CDKN2A) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Cytochrome c oxidase subunit VIb polypeptide 1 (COX6B1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - DNA sequence analysis of 6-10 exons


name: Molecular pathology procedure, Level 5 - Duplication analysis of 6-10 exons


name: Molecular pathology procedure, Level 5 - Duplication and deletion analysis of 6-10 exons


name: Molecular pathology procedure, Level 5 - Early growth response 2 (EGR2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Emerin (EMD) deletion analysis


name: Molecular pathology procedure, Level 5 - Emerin (EMD) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Emerin (EMD) duplication analysis


name: Molecular pathology procedure, Level 5 - Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) gene analysis for characterization of chromosome 4A and 4B haplotypes


name: Molecular pathology procedure, Level 5 - Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) gene analysis for characterization of chromosome 4A haplotype


name: Molecular pathology procedure, Level 5 - Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) gene analysis for characterization of chromosome 4B haplotype


name: Molecular pathology procedure, Level 5 - Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) gene analysis for characterization of haplotype


name: Molecular pathology procedure, Level 5 - Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) gene analysis for detection of abnormal alleles


name: Molecular pathology procedure, Level 5 - Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) gene analysis for detection of deleted alleles


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor 23 (FGF23) full gene sequence


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 2 (FGFR2) targeted sequence analysis


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 2 (FGFR2) targeted sequence analysis of exon 10


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 2 (FGFR2) targeted sequence analysis of exon 8


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 2 (FGFR2) targeted sequence analysis of exons 8 and 10


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 3 (FGFR3) targeted sequence analysis


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 3 (FGFR3) targeted sequence analysis of exon 12


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 3 (FGFR3) targeted sequence analysis of exon 13


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 3 (FGFR3) targeted sequence analysis of exon 8


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 3 (FGFR3) targeted sequence analysis of exons 11


name: Molecular pathology procedure, Level 5 - Fibroblast growth factor receptor 3 (FGFR3) targeted sequence analysis of exons 8, 11, 12, and 13


name: Molecular pathology procedure, Level 5 - Forkhead box G1 (FOXG1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Four and a half LIM domains 1 (FHL1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Fukutin related protein (FKRP) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Gene analysis for characterization of dynamic mutation disorder using Southern blot method


name: Molecular pathology procedure, Level 5 - Gene analysis for characterization of triplet repeat using Southern blot method


name: Molecular pathology procedure, Level 5 - Gene analysis using mutation scanning method


name: Molecular pathology procedure, Level 5 - Glycoprotein Ib [platelet], beta polypeptide (GP1BB) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Growth hormone 1 (GH1) full gene sequence


name: Molecular pathology procedure, Level 5 - HNF1 homeobox B (HBB) deletion analysis


name: Molecular pathology procedure, Level 5 - HNF1 homeobox B (HBB) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - HNF1 homeobox B (HBB) duplication analysis


name: Molecular pathology procedure, Level 5 - Heat shock 27kDa protein 1 (HSPB1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Hydroxysteroid [11-beta] dehydrogenase 2 (HSD11B2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Insulin (INS) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Lipopolysaccharide-induced TNF factor (LITAF) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Mediterranean fever (MEFV) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Methylmalonic aciduria [cobalamin deficiency] cblC type, with homocystinuria (MMACHC) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - MpV17 mitochondrial inner membrane protein (MPV17) gene analysis for detection of deletion and duplication analysis variants


name: Molecular pathology procedure, Level 5 - Multiple endocrine neoplasia I (MEN1) deletion analysis


name: Molecular pathology procedure, Level 5 - Multiple endocrine neoplasia I (MEN1) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Multiple endocrine neoplasia I (MEN1) duplication analysis


name: Molecular pathology procedure, Level 5 - NADH dehydrogenase [ubiquinone] 1 alpha subcomplex, 1, 7.5kDa (NDUFA1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - NADH dehydrogenase [ubiquinone] 1 alpha subcomplex, assembly factor 2 (NDUFAF2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - NADH dehydrogenase [ubiquinone] Fe-S protein 4, 18kDa [NADH-coenzyme Q reductase] (NDUFS4) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Neuroligin 4, X-linked (NLGN4X) deletion analysis


name: Molecular pathology procedure, Level 5 - Neuroligin 4, X-linked (NLGN4X) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Neuroligin 4, X-linked (NLGN4X) duplication analysis


name: Molecular pathology procedure, Level 5 - Niemann-Pick disease, type C2 (epididymal secretory protein E1) (NPC2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Non-imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Norrie disease (pseudoglioma) (NDP) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Nuclear receptor subfamily 0, group B, member 1 (NR0B1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - PROP paired-like homeobox 1 (PROP1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Paired-like homeobox 2b (PHOX2B) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Pancreatic and duodenal homeobox 1 (PDX1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Peripherin 2 [retinal degeneration, slow] (PRPH2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Polyglutamine binding protein 1 (PQBP1) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Prion protein (PRNP) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Protease, serine, 1 (trypsin 1) (PRSS1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Proteolipid protein 1 (PLP1) deletion analysis


name: Molecular pathology procedure, Level 5 - Proteolipid protein 1 (PLP1) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Proteolipid protein 1 (PLP1) duplication analysis


name: Molecular pathology procedure, Level 5 - Ret proto-oncogene (RET) gene analysis for detection of 2647_2648delinsTT variant


name: Molecular pathology procedure, Level 5 - Ret proto-oncogene (RET) gene analysis for detection of A883F variant


name: Molecular pathology procedure, Level 5 - Ret proto-oncogene (RET) gene analysis for detection of M918T variant


name: Molecular pathology procedure, Level 5 - Ret proto-oncogene (RET) gene analysis for detection of M918T, 2647_2648delinsTT, and A883F variants


name: Molecular pathology procedure, Level 5 - Ret proto-oncogene (RET) gene analysis for detection of common variant


name: Molecular pathology procedure, Level 5 - Retinitis pigmentosa 1 (RP1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Rhodopsin (RHO) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - SCO cytochrome oxidase deficient homolog 2 (SCO1L) (SCO2) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - SH2 domain containing 1A (SH2D1A) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG) deletion analysis


name: Molecular pathology procedure, Level 5 - Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG) duplication analysis


name: Molecular pathology procedure, Level 5 - Serine peptidase inhibitor, Kazal type 1 (SPINK1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Serine/threonine kinase 11 (STK11) deletion analysis


name: Molecular pathology procedure, Level 5 - Serine/threonine kinase 11 (STK11) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Serine/threonine kinase 11 (STK11) duplication analysis


name: Molecular pathology procedure, Level 5 - Sodium channel, voltage-gated, type I, beta (SCN1B) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Solute carrier family 16, member 2 (thyroid hormone transporter) (SLC16A2) deletion analysis


name: Molecular pathology procedure, Level 5 - Solute carrier family 16, member 2 (thyroid hormone transporter) (SLC16A2) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Solute carrier family 16, member 2 (thyroid hormone transporter) (SLC16A2) duplication analysis


name: Molecular pathology procedure, Level 5 - Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20) deletion analysis


name: Molecular pathology procedure, Level 5 - Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20) duplication analysis


name: Molecular pathology procedure, Level 5 - Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 (SLC25A4) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC) deletion analysis


name: Molecular pathology procedure, Level 5 - Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC) duplication analysis


name: Molecular pathology procedure, Level 5 - Succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Superoxide dismutase 1, soluble (SOD1) full gene sequence analysi


name: Molecular pathology procedure, Level 5 - THAP domain containing, apoptosis associated protein 1 (THAP1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Tocopherol [alpha] transfer protein (TTPA) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Torsin family 1, member A [torsin A] (TOR1A) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Translational activator of mitochondrial encoded cytochrome c oxidase I (TACO1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Transthyretin (TTR) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Twist homolog 1 (Drosophila) (TWIST1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Tyrosinase [oculocutaneous albinism IA] (TYR) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - Usher syndrome 1G (autosomal recessive) (USH1G) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - V-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) targeted sequence analysis of exon 12


name: Molecular pathology procedure, Level 5 - V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) targeted sequence analysis of exon 14


name: Molecular pathology procedure, Level 5 - V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) targeted sequence analysis of exon 17


name: Molecular pathology procedure, Level 5 - V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) targeted sequence analysis of exon 7


name: Molecular pathology procedure, Level 5 - V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) targeted sequence analysis of exons 7, 12, 14, and 17


name: Molecular pathology procedure, Level 5 - Von Willebrand factor (VWF) targeted sequence analysis of exon 26


name: Molecular pathology procedure, Level 5 - Von Willebrand factor (VWF) targeted sequence analysis of exon 27


name: Molecular pathology procedure, Level 5 - Von Willebrand factor (VWF) targeted sequence analysis of exons 26, 27, and 37


name: Molecular pathology procedure, Level 5 - Zinc finger E-box binding homeobox 2 (ZEB2) deletion analysis


name: Molecular pathology procedure, Level 5 - Zinc finger E-box binding homeobox 2 (ZEB2) deletion and duplication analysis


name: Molecular pathology procedure, Level 5 - Zinc finger E-box binding homeobox 2 (ZEB2) duplication analysis


name: Molecular pathology procedure, Level 5 - Zinc finger protein 41 (ZNF41) full gene sequence analysis


name: Molecular pathology procedure, Level 5 - von Hippel-Lindau tumor suppressor (VHL) full gene sequence analysis


name: ecular pathology procedure, Level 5 - Von Willebrand factor (VWF) targeted sequence analysis of exon 37


name: Molecular pathology procedure, Level 6 - ATP-binding cassette, subfamily D (ALD), member 1 (ALD) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Actin, alpha 2, smooth muscle, aorta (ACTA2) full gene sequence


name: Molecular pathology procedure, Level 6 - Acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Acyl-CoA dehyrdrogenase, C-2 to C-3 short chain (ACADS) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Ankyrin repeat domain 1 (ANKRD1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Aprataxin (ACTC1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Aprataxin (APTX) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Arylsulfatase A (ARSA) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - BCS1-like (S. cerevisiae) (BCS1L) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2) deletion analysis


name: Molecular pathology procedure, Level 6 - Bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2) duplication analysis


name: Molecular pathology procedure, Level 6 - Branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - COX10 homolog, cytochrome c oxidase assembly protein (COX10) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - COX15 homolog, cytochrome c oxidase assembly protein (COX15) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Calcium-sensing receptor CASR) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Calsequestrin 2 (cardiac muscle) (CASQ2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Cholinergic receptor, nicotinic, alpha 4 (CHRNA4) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Chymotrypsin C (CTRC) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Coproporphyrinogen oxidase (CPOX) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Cyclin-dependent kinase-like 5 (CDKL5) deletion analysis


name: Molecular pathology procedure, Level 6 - Cyclin-dependent kinase-like 5 (CDKL5) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Cyclin-dependent kinase-like 5 (CDKL5) duplication analysis


name: Molecular pathology procedure, Level 6 - Cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Cytochrome P450, family 21, subfamily A, polypeptide2 (CYP21A2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Cytogenomic constitutional targeted microarray analysis of chromosome 22q13 by interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities


name: Molecular pathology procedure, Level 6 - D 7-dehydrocholesterol reductase (DHCR7) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - DNA sequence analysis of 6-10 exons


name: Molecular pathology procedure, Level 6 - Deafness, autosomal recessive 59 (DFNB59) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Deletion analysis of 11-25 exons


name: Molecular pathology procedure, Level 6 - Deletion and duplication analysis of 11-25 exons


name: Molecular pathology procedure, Level 6 - Deoxyguanosine kinase (DGUOK) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Desmin (DES) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Dihydrolipoamide branched chain transacylase E2 (DBT) deletion analysis


name: Molecular pathology procedure, Level 6 - Dihydrolipoamide branched chain transacylase E2 (DBT) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Dihydrolipoamide branched chain transacylase E2 (DBT) duplication analysis


name: Molecular pathology procedure, Level 6 - Doublecortin (DCX) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Duplication analysis of 11-25 exons


name: Molecular pathology procedure, Level 6 - Emerin (EMD) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Endoglin (ENG) deletion analysis


name: Molecular pathology procedure, Level 6 - Endoglin (ENG) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Endoglin (ENG) duplication analysis


name: Molecular pathology procedure, Level 6 - Eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Eyes absent homolog 1 [Drosophila] (EYA1) deletion analysis


name: Molecular pathology procedure, Level 6 - Eyes absent homolog 1 [Drosophila] (EYA1) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Eyes absent homolog 1 [Drosophila] (EYA1) duplication analysis


name: Molecular pathology procedure, Level 6 - FtsJ RNA methyltransferase homolog 1 (E. coli) (FTSJ1) deletion analysis


name: Molecular pathology procedure, Level 6 - FtsJ RNA methyltransferase homolog 1 (E. coli) (FTSJ1) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - FtsJ RNA methyltransferase homolog 1 (E. coli) (FTSJ1) duplication analysis


name: Molecular pathology procedure, Level 6 - Fukutin (FKTN) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Fumarate hydratase (FH) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - GTP cyclohydrolase 1 (GCH1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Galactosidase, alpha (GLA) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Ganglioside-induced differentiation-associated protein 1 (GDAP1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Gene analysis of 6-10 exons using mutation scanning method


name: Molecular pathology procedure, Level 6 - Glial fibrillary acidic protein (GFAP) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Growth hormone releasing hormone receptor (GHRHR) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - HNF1 homeobox A (HNF1A) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - HNF1 homeobox B (HNF1B) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - HtrA serine peptidase 1 (HTRA1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Iduronate 2-sulfatase (IDS) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Isoprenoid synthase domain containing (ISPD) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Kirsten rat sarcoma viral oncogene homolog (KRAS) full gene sequence


name: Molecular pathology procedure, Level 6 - Low density lipoprotein receptor (LDLR) deletion analysis


name: Molecular pathology procedure, Level 6 - Low density lipoprotein receptor (LDLR) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Low density lipoprotein receptor (LDLR) duplication analysis


name: Molecular pathology procedure, Level 6 - Lysosomal-associated membrane protein 2 (LAMP2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Mannose phosphate isomerase (MPI) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Methylmalonic aciduria (cobalamine deficiency) type A (MMAA) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Methylmalonic aciduria (cobalamine deficiency) type B (MMAB) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Multiple endocrine neoplasia I (MEN1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Myelin protein zero (MPZ) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Myosin, light chain 2, regulatory, cardiac, slow (MYL2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Myotilin (MYL3) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Myotilin (MYOT) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Myotubularin 1 (MTM1) deletion analysis


name: Molecular pathology procedure, Level 6 - Myotubularin 1 (MTM1) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Myotubularin 1 (MTM1) duplication analysis


name: Molecular pathology procedure, Level 6 - NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa [NADH-coenzyme Q reductase] (NDUFS8) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Nephronophthisis 1 (juvenile) (NPHP1) deletion analysis


name: Molecular pathology procedure, Level 6 - Nephronophthisis 1 (juvenile) (NPHP1) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Nephronophthisis 1 (juvenile) (NPHP1) duplication analysis


name: Molecular pathology procedure, Level 6 - Nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Neurofibromin 2 (merlin) (NF2) deletion analysis


name: Molecular pathology procedure, Level 6 - Neurofibromin 2 (merlin) (NF2) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Neurofibromin 2 (merlin) (NF2) duplication analysis


name: Molecular pathology procedure, Level 6 - Neurofibromin 2 [merlin] (NEFL) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Neurofilament, light polypeptide (NEFL) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Neuroligin 3 (NLGN3) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Neuroligin 4, X-linked (NLGN4X) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Nuclear receptor binding SET domain protein 1 (NSD1) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Nuclear receptor binding SET domain protein 1 (NSD1) duplication analysis


name: Molecular pathology procedure, Level 6 - Ornithine carbamoyltransferase (OTC) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - POU class 1 homeobox 1 (POU1F1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - PTEN induced putative kinase 1 (PINK1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2) deletion analysis


name: Molecular pathology procedure, Level 6 - Parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2) duplication analysis


name: Molecular pathology procedure, Level 6 - Periaxin (PRX) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1) deletion analysis


name: Molecular pathology procedure, Level 6 - Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1) duplication analysis


name: Molecular pathology procedure, Level 6 - Polyglutamine binding protein 1 (PQBP1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Presenilin 1 (PSEN1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Propionyl CoA carboxylase, alpha polypeptide (PCCA) deletion analysis


name: Molecular pathology procedure, Level 6 - Propionyl CoA carboxylase, alpha polypeptide (PCCA) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Propionyl CoA carboxylase, alpha polypeptide (PCCA) duplication analysis


name: Molecular pathology procedure, Level 6 - Proteolipid protein 1 (PLP1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Protocadherin 19 (PCDH19) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1) deletion analysis


name: Molecular pathology procedure, Level 6 - Pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1) duplication analysis


name: Molecular pathology procedure, Level 6 - Pyruvate dehydrogenase [lipoamide] beta (PDHB) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Pyruvate kinase, liver and RBC (PKLR) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - RAB7A, member RAS oncogene family (RAB7A) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Receptor accessory protein 1 (REEP1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Ret proto-oncogene (RET) targeted sequence analysis


name: Molecular pathology procedure, Level 6 - Ret proto-oncogene (RET) targeted sequence analysis of exon 10


name: Molecular pathology procedure, Level 6 - Ret proto-oncogene (RET) targeted sequence analysis of exon 11


name: Molecular pathology procedure, Level 6 - Ret proto-oncogene (RET) targeted sequence analysis of exon 13


name: Molecular pathology procedure, Level 6 - Ret proto-oncogene (RET) targeted sequence analysis of exon 14


name: Molecular pathology procedure, Level 6 - Ret proto-oncogene (RET) targeted sequence analysis of exon 15


name: Molecular pathology procedure, Level 6 - Ret proto-oncogene (RET) targeted sequence analysis of exon 16


name: Molecular pathology procedure, Level 6 - Ret proto-oncogene (RET) targeted sequence analysis of exons 10, 11, and 13-16


name: Molecular pathology procedure, Level 6 - Retinoic acid induced 1 (RAI1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Ribonucleotide reductase M2 B (TP53 inducible) (RRM2B) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Ribosomal protein S19 (RPS19) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - SCO cytochrome oxidase deficient homolog 1 (SCO1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - SMAD family member 4 (SMAD4) deletion analysis


name: Molecular pathology procedure, Level 6 - SMAD family member 4 (SMAD4) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - SMAD family member 4 (SMAD4) duplication analysis


name: Molecular pathology procedure, Level 6 - Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Serine/threonine kinase 11 (STK11) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Short stature homeobox (SHOX) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) targeted sequence analysis


name: Molecular pathology procedure, Level 6 - Signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) targeted sequence analysis of exon 12


name: Molecular pathology procedure, Level 6 - Signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) targeted sequence analysis of exon 13


name: Molecular pathology procedure, Level 6 - Signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) targeted sequence analysis of exon 14


name: Molecular pathology procedure, Level 6 - Signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) targeted sequence analysis of exon 16


name: Molecular pathology procedure, Level 6 - Signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) targeted sequence analysis of exon 17


name: Molecular pathology procedure, Level 6 - Signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) targeted sequence analysis of exon 20


name: Molecular pathology procedure, Level 6 - Signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) targeted sequence analysis of exon 21


name: Molecular pathology procedure, Level 6 - Soc-2 suppressor of clear homolog (SHOC2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Solute carrier family 16, member 2 (thyroid hormone transporter) (SLC16A2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7) deletion analysis


name: Molecular pathology procedure, Level 6 - Spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7) duplication analysis


name: Molecular pathology procedure, Level 6 - Spastin (SPAST) deletion analysis


name: Molecular pathology procedure, Level 6 - Spastin (SPAST) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Spastin (SPAST) duplication analysis


name: Molecular pathology procedure, Level 6 - Sprouty-related, EVH1 domain containing 1 (SPRED1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Succinate dehydrogenase complex, subunit B, iron sulfur (SDHB) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Surfeit 1 (SURF1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - T-box 5 (TBX5) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - TAR DNA binding protein (TARDBP) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Thymidine kinase 2, mitochondrial (TK2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Thymidine phosphorylase (TYMP) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Thyroid hormone receptor, beta (THRB) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Transcription factor 4 (TCF4) deletion analysis


name: Molecular pathology procedure, Level 6 - Transcription factor 4 (TCF4) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Transcription factor 4 (TCF4) duplication analysis


name: Molecular pathology procedure, Level 6 - Transforming growth factor, beta receptor 1 (TGFBR1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Transforming growth factor, beta receptor 2 (TGFBR2) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Tropomyosin 1 (alpha) (TPM1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Troponin C type 1 (slow) (TNNC1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Troponin I, type 3 (cardiac) (TNNI3) full gene sequence


name: Molecular pathology procedure, Level 6 - Tuberous sclerosis 1 (TPM1) deletion analysis


name: Molecular pathology procedure, Level 6 - Tuberous sclerosis 1 (TPM1) deletion and duplication analysis


name: Molecular pathology procedure, Level 6 - Tuberous sclerosis 1 (TPM1) duplication analysis


name: Molecular pathology procedure, Level 6 - Von Willebrand factor (VWF) targeted sequence analysis of exons 18-20


name: Molecular pathology procedure, Level 6 - Von Willebrand factor (VWF) targeted sequence analysis of exons 18-20 and 23-25


name: Molecular pathology procedure, Level 6 - Von Willebrand factor (VWF) targeted sequence analysis of exons 23-25


name: Molecular pathology procedure, Level 6 - Wilms tumor 1 (WT1) full gene sequence analysis


name: Molecular pathology procedure, Level 6 - Zinc finger E-box binding homeobox 2 (ZEB2) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - AFG3 ATPase family gene 3-like 2 [S. cerevisiae] (AFG3L2) full gene sequence


name: Molecular pathology procedure, Level 7 - ATPase, Cu++ transporting, beta polypeptide (ATP7B) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2) full gene sequence


name: Molecular pathology procedure, Level 7 - Actinin, alpha 4 (ACTN4) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Acyl-CoA dehydrogenase, very long chain (ACADVL) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Aldehyde dehydrogenase 7 family, member A1 ALDH7A1) full gene sequence


name: Molecular pathology procedure, Level 7 - Amyloid beta [A4] precursor protein (APP) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Anoctamin 5 (ANO5) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Anosmin-1 (ANOS1) full gene sequence


name: Molecular pathology procedure, Level 7 - Argininosuccinate synthase 1 (ASS1) full gene sequence


name: Molecular pathology procedure, Level 7 - Atlastin GTPase 1 (ATL1) full gene sequence


name: Molecular pathology procedure, Level 7 - Autoimmune regulator (AIRE) full gene sequence


name: Molecular pathology procedure, Level 7 - Bardet-Biedl syndrome 1 (BBS1) full gene sequence


name: Molecular pathology procedure, Level 7 - Bardet-Biedl syndrome 2 (BBS2) full gene sequence


name: Molecular pathology procedure, Level 7 - Berardinelli-Seip congenital lipodystrophy 2 [seipin] (BSCL2) full gene sequence


name: Molecular pathology procedure, Level 7 - Bestrophin 1 (BEST1) full gene sequence


name: Molecular pathology procedure, Level 7 - Bone morphogenetic protein receptor, type II [serine/threonine kinase] (BMPR2) full gene sequence


name: Molecular pathology procedure, Level 7 - Branched-chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB) full gene sequence


name: Molecular pathology procedure, Level 7 - Bruton agammaglobulinemia tyrosine kinase (BTK) full gene sequence


name: Molecular pathology procedure, Level 7 - CREB binding protein (CREBBP) gene analysis for detection of deletion and duplication variants


name: Molecular pathology procedure, Level 7 - Cadherin 1, type 1, E-cadherin [epithelial] (CDH1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Calcium channel, voltage-dependent, beta 2 subunit (CACNB2) full gene sequence


name: Molecular pathology procedure, Level 7 - Calpain 3 (CAPN3) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Carnitine palmitoyltransferase 1A [liver] (CPT1A) full gene sequence


name: Molecular pathology procedure, Level 7 - Chloride channel 1, skeletal muscle (CLCN1) full gene sequence


name: Molecular pathology procedure, Level 7 - Chloride channel, voltage-sensitive Kb (CLCNKB) full gene sequence


name: Molecular pathology procedure, Level 7 - Coagulation factor VIII (F8) gene analysis for detection of deletion and duplication variants


name: Molecular pathology procedure, Level 7 - Coagulation factor VIII (F8) gene analysis for detection of deletion variant


name: Molecular pathology procedure, Level 7 - Coagulation factor VIII (F8) gene analysis for detection of duplication variant


name: Molecular pathology procedure, Level 7 - Collagen, type VI, alpha 2 (COL6A2) gene analysis for detection of deletion and duplication variants


name: Molecular pathology procedure, Level 7 - Contactin-associated protein-like 2 (CNTNAP2) full gene sequence


name: Molecular pathology procedure, Level 7 - Crumbs homolog 1 [Drosophila] (CRB1) full gene sequence


name: Molecular pathology procedure, Level 7 - Cyclin-dependent kinase-like 5 (CDKL5) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Cystathionine-beta-synthase (CBS) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Desmocollin (DSC2) full gene sequence


name: Molecular pathology procedure, Level 7 - Desmoglein 2 (DSG2) full gene sequence


name: Molecular pathology procedure, Level 7 - Desmoplakin (DSP) full gene sequence


name: Molecular pathology procedure, Level 7 - Dihydrolipoamide S-acetyltransferase (DLAT) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Dihydrolipoamide branched chain transacylase E2 (DBT) full gene sequence


name: Molecular pathology procedure, Level 7 - Dihydrolipoamide dehydrogenase (DLD) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - EF-hand domain [C-terminal] containing 1 (EFHC1) full gene sequence


name: Molecular pathology procedure, Level 7 - Endoglin (ENG) full gene sequence


name: Molecular pathology procedure, Level 7 - Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3) full gene sequence


name: Molecular pathology procedure, Level 7 - Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4) full gene sequence


name: Molecular pathology procedure, Level 7 - Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5) full gene sequence


name: Molecular pathology procedure, Level 7 - Eyes absent homolog 1 [Drosophila] (EYA1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - FAST kinase domains 2 (FASTKD2) full gene sequence


name: Molecular pathology procedure, Level 7 - FIG4 homolog, SAC1 lipid phosphatase domain containing [S. cerevisiae] (FIG4) full gene sequence


name: Molecular pathology procedure, Level 7 - FtsJ RNA methyltransferase homolog 1 [E. coli] (FTSJ1) full gene sequence


name: Molecular pathology procedure, Level 7 - Fumarylacetoacetate hydrolase [fumarylacetoacetase] (FAH) full gene sequence


name: Molecular pathology procedure, Level 7 - Fused in sarcoma (FUS) full gene sequence


name: Molecular pathology procedure, Level 7 - Galactose-1-phosphate uridylyltransferase (GALT) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Galactosylceramidase (GALC) full gene sequence


name: Molecular pathology procedure, Level 7 - Glucokinase [hexokinase 4] (GCK) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Glucosamine [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine kinase (GNE) full gene sequence


name: Molecular pathology procedure, Level 7 - Glucosidase, alpha; acid (GAA) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Glutamate dehydrogenase 1 (GLUD1) full gene


name: Molecular pathology procedure, Level 7 - Glutaryl-CoA dehydrogenase (GCDH) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Glycyl-tRNA synthetase (GARS) full gene sequence


name: Molecular pathology procedure, Level 7 - Granulin (GRN) full gene sequence


name: Molecular pathology procedure, Level 7 - HLCS holocarboxylase synthetase (HLC) full gene sequence


name: Molecular pathology procedure, Level 7 - Hepatocyte nuclear factor 4, alpha (HNF4A) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Hexosaminidase A, alpha polypeptide (HEXA) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase [trifunctional protein] alpha subunit (HADHA) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase [trifunctional protein] beta subunit (HADHB) full gene sequence


name: Molecular pathology procedure, Level 7 - Hydroxymethylbilane synthase (HMBS) full gene sequence


name: Molecular pathology procedure, Level 7 - Iduronidase, alpha-L- (IDUA) full gene sequence


name: Molecular pathology procedure, Level 7 - Inverted formin, FH2 and WH2 domain containing (INF2) full gene sequence


name: Molecular pathology procedure, Level 7 - Isovaleryl-CoA dehydrogenase (IVD) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Jagged 1 (JAG1) gene analysis for detection of deletion and duplication variants


name: Molecular pathology procedure, Level 7 - Jagged 1 (JAG1) gene analysis for detection of deletion variant


name: Molecular pathology procedure, Level 7 - Jagged 1 (JAG1) gene analysis for detection of duplication variant


name: Molecular pathology procedure, Level 7 - Junction plakoglobin (JUP) full gene sequence


name: Molecular pathology procedure, Level 7 - LIM domain binding 3 (LDB3) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Lamin A/C (LMNA) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Leptin receptor (LEPR) full gene


name: Molecular pathology procedure, Level 7 - Low density lipoprotein receptor (LDLR) full gene sequence


name: Molecular pathology procedure, Level 7 - Low density lipoprotein receptor-related protein 5 (LRP5) full gene sequence


name: Molecular pathology procedure, Level 7 - Luteinizing hormone/choriogonadotropin receptor (LHCGR) full gene sequence


name: Molecular pathology procedure, Level 7 - Methylcrotonoyl-CoA carboxylase 1 [alpha] (MCCC1) full gene sequence


name: Molecular pathology procedure, Level 7 - Methylcrotonoyl-CoA carboxylase 2 [beta] (MCCC2) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Methylmalonyl CoA mutase (MUT) full gene sequence


name: Molecular pathology procedure, Level 7 - Microtubule-associated protein tau (MAPT) full gene sequence


name: Molecular pathology procedure, Level 7 - Mitofusin 2 (MFN2) full gene sequence


name: Molecular pathology procedure, Level 7 - Mitogen-activated protein kinase 1 (MAP2K1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Mitogen-activated protein kinase 2 (MAP2K1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Mitogen-activated protein kinase 2 (MAP2K2) full gene sequence


name: Molecular pathology procedure, Level 7 - Molecular pathology DNA sequence analysis of gene


name: Molecular pathology procedure, Level 7 - Molecular pathology gene analysis for detection of deletion variant


name: Molecular pathology procedure, Level 7 - Molecular pathology gene analysis for detection of duplication and deletion variants


name: Molecular pathology procedure, Level 7 - Molecular pathology gene analysis for detection of duplication variant


name: Molecular pathology procedure, Level 7 - Molecular pathology gene analysis using mutation scanning method


name: Molecular pathology procedure, Level 7 - MutY homolog [E. coli] (MUTYH) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Myotubularin 1 (MTM1) full gene sequence


name: Molecular pathology procedure, Level 7 - NADH dehydrogenase [ubiquinone] Fe-S protein 1, 75kDa [NADH-coenzyme Q reductase] (NDUFS1) full gene sequence


name: Molecular pathology procedure, Level 7 - Nephronophthisis 1 [juvenile] (NPHP1) full gene sequence


name: Molecular pathology procedure, Level 7 - Neurofibromin 2 [merlin](NF2) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Niemann-Pick disease, type C1 (NPC1) full gene sequence


name: Molecular pathology procedure, Level 7 - Notch 3 (NOTCH3) targeted sequence analysis


name: Molecular pathology procedure, Level 7 - Notch 3 (NOTCH3) targeted sequence analysis of exons 1-23


name: Molecular pathology procedure, Level 7 - Nuclear receptor binding SET domain protein 1 (NSD1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Optic atrophy 1 (OPA1) gene analysis for detection of deletion and duplication variants


name: Molecular pathology procedure, Level 7 - Optic atrophy 1 (OPA1) gene analysis for detection of deletion variant


name: Molecular pathology procedure, Level 7 - Optic atrophy 1 (OPA1) gene analysis for detection of duplication variant


name: Molecular pathology procedure, Level 7 - Optineurin (OPTN) full gene sequence


name: Molecular pathology procedure, Level 7 - Paired box 2 (PAX2) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Paroxysmal nonkinesigenic dyskinesia (PNKD) full gene sequence


name: Molecular pathology procedure, Level 7 - Phenylalanine hydroxylase (PAH) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Phosphate-regulating endopeptidase homolog, X-linked (PHEX) full gene sequence


name: Molecular pathology procedure, Level 7 - Phosphorylase, glycogen, muscle (PYGM) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Plakophilin 2 (PKP2) full gene sequence


name: Molecular pathology procedure, Level 7 - Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 [45kDa] (PAFAH1B1) full gene sequence


name: Molecular pathology procedure, Level 7 - Polycystic kidney disease 2 [autosomal dominant] (PKD2) full gene sequence


name: Molecular pathology procedure, Level 7 - Polymerase [DNA directed], gamma (POLG) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) full gene sequence


name: Molecular pathology procedure, Level 7 - Potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2) full gene sequence


name: Molecular pathology procedure, Level 7 - Potassium voltage-gated channel, subfamily H [eag-related], member 2 (KCNH2) full gene sequence


name: Molecular pathology procedure, Level 7 - Presenilin 2 [Alzheimer disease 4] (PSEN2) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Propionyl CoA carboxylase, alpha polypeptide (PCCA) full gene sequence


name: Molecular pathology procedure, Level 7 - Propionyl CoA carboxylase, beta polypeptide (PCCB) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Proprotein convertase subtilisin/kexin type 9 (PCSK9) full gene sequence


name: Molecular pathology procedure, Level 7 - Protein O-linked mannose beta1,2-N acetylglucosaminyltransferase (POMGNT1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Protein kinase C, gamma (PRKCG) full gene sequence


name: Molecular pathology procedure, Level 7 - Protein kinase, AMP-activated, gamma 2 noncatalytic subunit (PRKAG2) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Protein tyrosine phosphatase, non-receptor type 11 (PTPN11) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Protein-O-mannosyltransferase 1 (POMT1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Protein-O-mannosyltransferase 2 (POMT2) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Protocadherin-related 15 (PCDH15) gene analysis for detection of deletion and duplication variants


name: Molecular pathology procedure, Level 7 - Protoporphyrinogen oxidase (PPOX) full gene sequence


name: Molecular pathology procedure, Level 7 - Pyruvate carboxylase (PC) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Pyruvate dehydrogenase [lipoamide] alpha 1 (PDHA1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Pyruvate dehydrogenase complex, component X (PDHX) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Ret proto-oncogene (RET) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Retinal pigment epithelium-specific protein 65kDa (RPE65) full gene sequence


name: Molecular pathology procedure, Level 7 - Ryanodine receptor 1, skeletal (RYR1) targeted sequence analysis of exons with functionally-confirmed mutations


name: Molecular pathology procedure, Level 7 - SH3 domain and tetratricopeptide repeats 2 (SH3TC2) full gene sequence


name: Molecular pathology procedure, Level 7 - SMAD family member 4 (SMAD4) full gene sequence


name: Molecular pathology procedure, Level 7 - Sarcoglycan, epsilon (SGCE) full gene sequence


name: Molecular pathology procedure, Level 7 - Senataxin (SETX) full gene sequence


name: Molecular pathology procedure, Level 7 - Sodium channel, nonvoltage-gated 1 alpha (SCNN1A) full gene sequence


name: Molecular pathology procedure, Level 7 - Sodium channel, nonvoltage-gated 1, beta (SCNN1B) full gene sequence


name: Molecular pathology procedure, Level 7 - Sodium channel, nonvoltage-gated 1, gamma (SCNN1G) full gene sequence


name: Molecular pathology procedure, Level 7 - Sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) full gene sequence


name: Molecular pathology procedure, Level 7 - Solute carrier family 26, member 4 (SLC26A4) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Solute carrier family 9 [sodium/hydrogen exchanger], member 6 (SLC9A6) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Son of sevenless homolog 1 (SOS1) full gene sequence


name: Molecular pathology procedure, Level 7 - Son of sevenless homolog 1 (SOS1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Spastic paraplegia 7 [pure and complicated autosomal recessive] (SPG7) full gene sequence


name: Molecular pathology procedure, Level 7 - Spastin (SPAST) full gene sequence


name: Molecular pathology procedure, Level 7 - Succinate dehydrogenase complex, subunit A, flavoprotein [Fp] (SDHA) full gene sequence


name: Molecular pathology procedure, Level 7 - Syntaxin-binding protein 1 (STXBP1) full gene sequence


name: Molecular pathology procedure, Level 7 - Tafazzin (TAZ) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Transcription factor 4 (TCF4) full gene sequence


name: Molecular pathology procedure, Level 7 - Transient receptor potential cation channel, subfamily C, member 6 (TRPC6) full gene sequence


name: Molecular pathology procedure, Level 7 - Transmembrane protein 43 (TMEM43) full gene sequence


name: Molecular pathology procedure, Level 7 - Troponin T, type 2 [cardiac] (TNNT2) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Tuberous sclerosis 1 (TSC1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Tuberous sclerosis 2 (TSC2) gene analysis for detection of deletion and duplication variants


name: Molecular pathology procedure, Level 7 - Tuberous sclerosis 2 (TSC2) gene analysis for detection of deletion variant


name: Molecular pathology procedure, Level 7 - Tuberous sclerosis 2 (TSC2) gene analysis for detection of duplication variant


name: Molecular pathology procedure, Level 7 - Tyrosine hydroxylase (TH) full gene sequence


name: Molecular pathology procedure, Level 7 - Ubiquitin protein ligase E3A (UBE3A) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Uromodulin (UMOD) full gene sequence


name: Molecular pathology procedure, Level 7 - V-raf murine sarcoma viral oncogene homolog B1 (BRAF) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) full gene sequence analysis


name: Molecular pathology procedure, Level 7 - Von Willebrand factor (VWF) extended targeted sequence analysis


name: Molecular pathology procedure, Level 7 - Von Willebrand factor (VWF) extended targeted sequence analysis of exons 11-16, 24-26, 51, and 52


name: Molecular pathology procedure, Level 7 - Von Willebrand factor (VWF) targeted sequence analysis of exon 51


name: Molecular pathology procedure, Level 7 - Von Willebrand factor (VWF) targeted sequence analysis of exon 52


name: Molecular pathology procedure, Level 7 - Von Willebrand factor (VWF) targeted sequence analysis of exons 11-16


name: Molecular pathology procedure, Level 7 - Von Willebrand factor (VWF) targeted sequence analysis of exons 24-26


name: Molecular pathology procedure, Level 7 - Wiskott-Aldrich syndrome [eczema-thrombocytopenia] (WAS) full gene sequence


name: Molecular pathology procedure, Level 7 - interrogation of copy number, and loss-of-heterozygosity using single nucleotide polymorphism [SNP]-based comparative genomic hybridization [CGH] microarray analysis


name: Molecular pathology procedure, Level 8 - ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Apolipoprotein B (APOB) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Chromodomain helicase DNA binding protein 7 (CHD7) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Coagulation factor VIII (F8) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - DNA sequence analysis of gene


name: Molecular pathology procedure, Level 8 - Gene analysis for detection of deletion variant


name: Molecular pathology procedure, Level 8 - Gene analysis for detection of duplication and deletion variants


name: Molecular pathology procedure, Level 8 - Gene analysis for detection of duplication variant


name: Molecular pathology procedure, Level 8 - Gene analysis using mutation scanning method


name: Molecular pathology procedure, Level 8 - Jagged 1 (JAG1) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Myosin VIIA (MYO7A) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Myosin binding protein C, cardiac (MYBPC3) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Myosin, heavy chain 6, cardiac muscle, alpha (MYH6) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Myosin, heavy chain 7, cardiac muscle, beta (MYH7) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Notch 1 (NOTCH1) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Optic atrophy 1 (OPA1) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Protocadherin-related 15 (PCDH15) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Sodium channel, voltage-gated, type 1, alpha subunit (SCN1A) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Sodium channel, voltage-gated, type V, alpha subunit (SCN5A) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Tuberous sclerosis 2 (TSC2) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Usher syndrome 1C [autosomal recessive, severe] (USH1C) full gene sequence analysis


name: Molecular pathology procedure, Level 8 - Abelson helper integration site 1 (AHI1) full gene sequence


name: Molecular pathology procedure, Level 8 - Abnormal spindle [asp] homolog, microcephaly associated [Drosophila] (ASPM) full gene sequence


name: Molecular pathology procedure, Level 8 - Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL) full gene sequence


name: Molecular pathology procedure, Level 8 - CREB binding protein (CREBBP) full gene sequence


name: Molecular pathology procedure, Level 8 - Collagen, type IV, alpha 4 (COL4A4) full gene sequence


name: Molecular pathology procedure, Level 8 - Collagen, type IV, alpha 5 (COL4A5) deletion and duplication analysis


name: Molecular pathology procedure, Level 8 - Collagen, type VI, alpha 1 (COL6A1) full gene sequence


name: Molecular pathology procedure, Level 8 - Collagen, type VI, alpha 2 (COL6A2) full gene sequence


name: Molecular pathology procedure, Level 8 - KIAA0196 full gene sequence


name: Molecular pathology procedure, Level 8 - L1 cell adhesion molecule (L1CAM) full gene sequence


name: Molecular pathology procedure, Level 8 - Laminin, beta 2 [laminin S] (LAMB2) full gene sequence


name: Molecular pathology procedure, Level 8 - Lysine [K]-specific demethylase 5C (KDM5C) full gene sequence


name: Molecular pathology procedure, Level 8 - Nephrosis 1, congenital, Finnish type [nephrin] (NPHS1) full gene sequence


name: Molecular pathology procedure, Level 8 - Phospholipase C, epsilon 1 (PLCE1) full gene sequence


name: Molecular pathology procedure, Level 8 - Solute carrier family 12 [sodium/chloride transporters], member 3 (SLC12A3) full gene sequence


name: Molecular pathology procedure, Level 8 - Solute carrier family 12 [sodium/potassium/chloride transporters], member 1 (SLC12A1) full gene sequence


name: Molecular pathology procedure, Level 8 - Spastic paraplegia 11 [autosomal recessive] (SPG11) full gene sequence


name: Molecular pathology procedure, Level 8 - Spectrin, beta, non-erythrocytic 2 (SPTBN2) full gene sequence


name: Molecular pathology procedure, Level 8 - Vacuolar protein sorting 13 homolog B [yeast] (VPS13B) deletion and duplication analysis


name: Molecular pathology procedure, Level 8 - WD repeat domain 62 (WDR62) full gene sequence


name: Molecular pathology procedure, Level 9 - ATP-binding cassette, sub-family A [ABC1], member 4 (ABCA4) full gene sequence


name: Molecular pathology procedure, Level 9 - Ataxia telangiectasia mutated (ATM) full gene sequence analysis


name: Molecular pathology procedure, Level 9 - Cadherin-related 23 (CDH23) full gene sequence analysis


name: Molecular pathology procedure, Level 9 - Centrosomal protein 290kDa (CEP290) full gene sequence


name: Molecular pathology procedure, Level 9 - Collagen, type I, alpha 1 (COL1A1) full gene sequence analysis


name: Molecular pathology procedure, Level 9 - Collagen, type I, alpha 2 (COL1A2) full gene sequence analysis


name: Molecular pathology procedure, Level 9 - Collagen, type IV, alpha 1 (COL4A1) full gene sequence


name: Molecular pathology procedure, Level 9 - Collagen, type IV, alpha 3 [Goodpasture antigen] (COL4A3) full gene sequence


name: Molecular pathology procedure, Level 9 - Collagen, type IV, alpha 5 (COL4A5) full gene sequence


name: Molecular pathology procedure, Level 9 - DNA sequence analysis of gene


name: Molecular pathology procedure, Level 9 - Dysferlin, limb girdle muscular dystrophy 2B [autosomal recessive] (DYSF) full gene sequence analysis


name: Molecular pathology procedure, Level 9 - Dystrophin (DMD) full gene sequence


name: Molecular pathology procedure, Level 9 - Fibrillin 1 (FBN1) full gene sequence analysis


name: Molecular pathology procedure, Level 9 - Inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1) full gene sequence


name: Molecular pathology procedure, Level 9 - Laminin, alpha 2 (LAMA2) full gene sequence


name: Molecular pathology procedure, Level 9 - Leucine-rich repeat kinase 2 (LRRK2) full gene sequence


name: Molecular pathology procedure, Level 9 - Myosin, heavy chain 11, smooth muscle (MYH11) full gene sequence


name: Molecular pathology procedure, Level 9 - Nebulin (NEB) full gene sequence


name: Molecular pathology procedure, Level 9 - Neurofibromin 1 (NF1) full gene sequence analysis


name: Molecular pathology procedure, Level 9 - Polycystic kidney and hepatic disease 1 (PKHD1) full gene sequence


name: Molecular pathology procedure, Level 9 - Ryanodine receptor 1, skeletal (RYR1) full gene sequence analysis


name: Molecular pathology procedure, Level 9 - Ryanodine receptor 2 [cardiac] (RYR2) full gene sequence or targeted sequence analysis of > 50 exons


name: Molecular pathology procedure, Level 9 - Usher syndrome 2A [autosomal recessive, mild] (USH2A) full gene sequence analysis


name: Molecular pathology procedure, Level 9 - Vacuolar protein sorting 13 homolog B [yeast] (VPS13B) full gene sequence


name: Molecular pathology procedure, Level 9 - von Willebrand factor (VWF) full gene sequence analysis


name: Test for detecting genes associated with heart disease, genomic sequence analysis panel, at least 9 genes


name: Aortic dilation gene sequence analysis panel for detection of FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK variants


name: Aortic dysfunction gene sequence analysis panel for detection of FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK variants


name: Test for detecting genes associated with heart disease, duplication/deletion analysis panel


name: Aortic dilation gene deletion and duplication analysis panel - TGFBR1, TGFBR2, MYH11, and COL3A1 variants


name: Aortic dysfunction gene deletion and duplication analysis panel - TGFBR1, TGFBR2, MYH11, and COL3A1 variants


name: Test for detecting genes for disorders related to Ashkenazi Jews, genomic sequence analysis panel, at least 9 genes


name: Ashkenazi Jewish associated disorders genomic sequence analysis panel with sequencing of 9 or more genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1


name: Test for detecting genes associated with heart disease, genomic sequence analysis panel, at least 10 genes


name: Cardiac ion channelopathies genomic sequence analysis panel with sequencing of 10 or more genes, including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A


name: Test for detecting genes associated with heart disease, duplication/deletion analysis panel, at least 2 genes


name: Cardiac ion channelopathies deletion and duplication analysis panel with analysis of multiple genes, including KCNH2 and KCNQ1


name: Test for detecting exome, sequence analysis, each comparator exome


name: Exome sequence analysis re-evaluation of previously obtained exome sequence


name: Epilepsy genomic sequence analysis panel, must include analyses for ALDH7A1, CACNA1A, CDKL5, CHD2, GABRG2, GRIN2A, KCNQ2, MECP2, PCDH19, POLG, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, STXBP1, SYNGAP1, TCF4, TPP1, TSC1, TSC2, and ZEB2


name: Gene analysis panel for evaluation of genes associated with epilepsy


name: Epilepsy genomic sequence analysis panel, including ALDH7A1, CACNA1A, CDKL5, CHD2, GABRG2, GRIN2A, KCNQ2, MECP2, PCDH19, POLG, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, STXBP1, SYNGAP1, TCF4, TPP1, TSC1, TSC2, and ZEB2


name: Fetal chromosomal aneuploid genomic sequence analysis panel with analysis of chromosomes 13, 18, and 21


name: Test for detecting genes associated with fetal disease, microdeletion(s) genomic sequence analysis


name: Test for detecting genes associated with disease, genome sequence analysis


name: Test for detecting genes associated with disease, genome sequence analysis, each additional comparator genome


name: Genome sequence analysis for each comparator exome


name: Reevaluation test of previously obtained genome sequence


name: Re-evaluation of previously obtained genome sequence


name: Test for detecting genes causing hearing loss genomic sequence analysis panel, at least 60 genes


name: Hearing loss genomic sequence analysis panel with sequencing of 60 or more genes, including CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, and WFS1 genes


name: Hearing loss gene analysis panel for deletion and duplication variants, including STRC and DFNB1 deletions in GJB2 and GJB6 genes


name: Hereditary breast cancer-related disorders genomic sequence analysis panel with 10 or more genes, including BRCA1, BRCA2, CDH1, MLH1, MSH2, MSH6, PALB2, PTEN, STK11, and TP53


name: Hereditary breast cancer-related disorders for deletion and duplication analysis panel, including BRCA1, BRCA2, MLH1, MSH2, and STK11


name: Hereditary retinal disorders genomic sequence analysis panel with sequencing of 15 or more genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A


name: Hereditary colon cancer disorders genomic sequence analysis panel with sequencing of 10 or more genes, including APC, BMPR1A, CDH1, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, and STK11 genes


name: Test for detecting genes associated with colon cancer, duplication/deletion analysis panel, at least 5 genes


name: Hereditary colon cancer disorders deletion and duplication analysis panel with analysis of 5 or more genes, including MLH1, MSH2, EPCAM, SMAD4, and STK11 genes