name: Level 5 molecular pathology procedure - Full gene sequence analysis of transthyretin (TTR) for evaluation of familial transthyretin amyloidosis


name: Level 5 molecular pathology procedure - Full gene sequence analysis of twist homolog 1 (Drosophila) (TWIST1) for the evaluation of Saethre-Chotzen syndrome


name: Level 5 molecular pathology procedure - Full gene sequence analysis of tyrosinase [oculocutaneous albinism IA] (TYR) for evaluation of oculocutaneous albinism IA


name: Level 5 molecular pathology procedure - Full gene sequence analysis of ydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2) for evaluation of 3-beta-hydroxtsteroid dehydrogenase type II deficiency


name: Level 5 molecular pathology procedure - Full gene sequence analysis of zinc finger protein 41 (ZNF41) for evaluation of X-linked intellectual disability


name: Level 5 molecular pathology procedure - Full gene sequence of UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) for the evaluation of hereditary unconjugated hyperbilirubinemia (Crigler-Najjar syndrome)


name: Level 5 molecular pathology procedure - Full gene sequence of aristaless related homeobox (ARX) for evaluation of X-linked lissencephaly with ambiguous genitalia


name: Level 5 molecular pathology procedure - Full gene sequence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) for evaluation of primary congenital glaucoma


name: Level 5 molecular pathology procedure - Gene analysis for ret proto-oncogene (RET) for detection of common variants in the evaluation multiple endocrine neoplasia, type 2B


name: Level 5 molecular pathology procedure - Gene analysis for ret proto-oncogene (RET) for detection of common variants in the evaluation of familial medullary thyroid carcinoma


name: Level 5 molecular pathology procedure - Gene analysis of Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) for characterization of chromosome 4A and 4B haplotypes for evaluation of facioscapulohumeral muscular dystrophy


name: Level 5 molecular pathology procedure - Gene analysis of Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) for characterization of chromosome 4A haplotype for evaluation of facioscapulohumeral muscular dystrophy


name: Level 5 molecular pathology procedure - Gene analysis of Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) for characterization of chromosome 4B haplotype for evaluation of facioscapulohumeral muscular dystrophy


name: Level 5 molecular pathology procedure - Gene analysis of Facioscapulohumeral muscular dystrophy 1A (FSHMD1A) for characterization of haplotype for evaluation of facioscapulohumeral muscular dystrophy


name: Level 5 molecular pathology procedure - Gene analysis of Ret proto-oncogene (RET) for detection of 2647_2648delinsTT variant in the evaluation of familial medullary thyroid carcinoma


name: Level 5 molecular pathology procedure - Gene analysis of Ret proto-oncogene (RET) for detection of 2647_2648delinsTT variant in the evaluation of multiple endocrine neoplasia, type 2B


name: Level 5 molecular pathology procedure - Gene analysis of facioscapulohumeral muscular dystrophy 1A (FSHMD1A) for detection of abnormal alleles in for evaluation of facioscapulohumeral muscular dystrophy


name: Level 5 molecular pathology procedure - Gene analysis of facioscapulohumeral muscular dystrophy 1A (FSHMD1A) for detection of deleted alleles in for evaluation of facioscapulohumeral muscular dystrophy


name: Level 5 molecular pathology procedure - Gene analysis of ret proto-oncogene (RET) for detection of A883F variant in the evaluation of familial medullary thyroid carcinoma


name: Level 5 molecular pathology procedure - Gene analysis of ret proto-oncogene (RET) for detection of A883F variant in the evaluation of multiple endocrine neoplasia, type 2B


name: Level 5 molecular pathology procedure - Gene analysis of ret proto-oncogene (RET) for detection of M918T variant in the evaluation of familial medullary thyroid carcinoma


name: Level 5 molecular pathology procedure - Gene analysis of ret proto-oncogene (RET) for detection of M918T variant in the evaluation of multiple endocrine neoplasia, type 2B


name: Level 5 molecular pathology procedure - Gene analysis of ret proto-oncogene (RET) for detection of M918T, 2647_2648delinsTT, and A883F variants in the evaluation of familial medullary thyroid carcinoma


name: Level 5 molecular pathology procedure - Gene analysis of ret proto-oncogene (RET) for detection of M918T, 2647_2648delinsTT, and A883F variants in the evaluation of multiple endocrine neoplasia, type 2B


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


name: Level 5 molecular pathology procedure - MpV17 mitochondrial inner membrane protein (MPV17) deletion analysis


name: Level 5 molecular pathology procedure - MpV17 mitochondrial inner membrane protein (MPV17) deletion and duplication analysis


name: Level 5 molecular pathology procedure - MpV17 mitochondrial inner membrane protein (MPV17) duplication analysis


name: Level 5 molecular pathology procedure - Mutation scanning of 6-10 exons


name: Level 5 molecular pathology procedure - Polyglutamine binding protein 1 (PQBP1) deletion analysis


name: Level 5 molecular pathology procedure - Polyglutamine binding protein 1 (PQBP1) duplication analysis


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


name: Level 5 molecular pathology procedure - Targeted sequence analysis exon 10 of fibroblast growth factor receptor 2 (FGFR2) for evaluation of Crouzon syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS) exons 5 and 6 for evaluation of short chain acyl-CoA dehydrogenase deficiency


name: Level 5 molecular pathology procedure - Targeted sequence analysis of acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS)for evaluation of short chain acyl-CoA dehydrogenase deficiency


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 10 of fibroblast growth factor receptor 2 (FGFR2) for evaluation of Apert syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 10 of fibroblast growth factor receptor 2 (FGFR2) for evaluation of craniosynostosis


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 11 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of achondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 11 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of hypochondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 12 of V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) for evaluation of LEOPARD syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 12 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of achondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 12 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of hypochondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 13 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of achondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 13 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of hypochondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 14 of V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) for evaluation of LEOPARD syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 17 of V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) for evaluation of LEOPARD syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 26 of Von Willebrand factor (VWF) for evaluation of von Willebrand disease type 1C


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 27 of Von Willebrand factor (VWF) for evaluation of von Willebrand disease type 1C


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 37 of Von Willebrand factor (VWF) for evaluation of von Willebrand disease type 1C


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 7 of V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) for evaluation of LEOPARD syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 7, 12, 14, and 17 of V-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) for evaluation of LEOPARD syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 8 of fibroblast growth factor receptor 2 (FGFR2) for evaluation of Apert syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 8 of fibroblast growth factor receptor 2 (FGFR2) for evaluation of Crouzon syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 8 of fibroblast growth factor receptor 2 (FGFR2) for evaluation of craniosynostosis


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 8 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of achondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exon 8 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of hypochondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exons 26, 27, and 37 of Von Willebrand factor (VWF) for evaluation of von Willebrand disease type 1C


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exons 8 and 10 of fibroblast growth factor receptor 2 (FGFR2) for evaluation of Apert syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exons 8 and 10 of fibroblast growth factor receptor 2 (FGFR2) for evaluation of Crouzon syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exons 8 and 10 of fibroblast growth factor receptor 2 (FGFR2) for evaluation of craniosynostosis


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exons 8, 11 , 12, and 13 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of hypochondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of exons 8, 11, 12, and 13 of fibroblast growth factor receptor 3 (FGFR3) for evaluation of achondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of fibroblast growth factor receptor 2 (FGFR2) for evaluation of Apert syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of fibroblast growth factor receptor 2 (FGFR2) for evaluation of Crouzon syndrome


name: Level 5 molecular pathology procedure - Targeted sequence analysis of fibroblast growth factor receptor 2 (FGFR2) for evaluation of craniosynostosis


name: Level 5 molecular pathology procedure - Targeted sequence analysis of fibroblast growth factor receptor 3 (FGFR3) for evaluation of achondroplasia


name: Level 5 molecular pathology procedure - Targeted sequence analysis of fibroblast growth factor receptor 3 (FGFR3) for evaluation of hypochondroplasia


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


name: Level 5 molecular pathology procedure -Duplication and deletion analysis of variants of 6-10 exons


name: Level 6 molecular pathology - Full gene sequence analysis of myelin protein zero (MPZ) for evaluation of Charcot-Marie-Tooth


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


name: Level 6 molecular pathology procedure - Analysis of 6-10 exons by DNA sequence analysis


name: Level 6 molecular pathology procedure - Deletion analysis of FtsJ RNA methyltransferase homolog 1 (E. coli) (FTSJ1) for evaluation of X-linked intellectual disability


name: Level 6 molecular pathology procedure - Deletion analysis of Parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2) for evaluation of Parkinson disease


name: Level 6 molecular pathology procedure - Deletion analysis of SMAD family member 4 (SMAD4) for evaluation of hemorrhagic telangiectasia syndrome


name: Level 6 molecular pathology procedure - Deletion analysis of SMAD family member 4 (SMAD4) for evaluation of juvenile polyposis


name: Level 6 molecular pathology procedure - Deletion analysis of bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2) for evaluation of heritable pulmonary arterial hypertension


name: Level 6 molecular pathology procedure - Deletion analysis of cyclin-dependent kinase-like 5 (CDKL5) for evaluation of early infantile epileptic encephalopathy


name: Level 6 molecular pathology procedure - Deletion analysis of dihydrolipoamide branched chain transacylase E2 (DBT) for evaluation of maple syrup urine disease, type 2


name: Level 6 molecular pathology procedure - Deletion analysis of endoglin (ENG) for the evaluation of hereditary hemorrhagic telangiectasia, type 1


name: Level 6 molecular pathology procedure - Deletion analysis of eyes absent homolog 1 [Drosophila] (EYA1) for evaluation of branchio-oto-renal (BOR) spectrum disorders


name: Level 6 molecular pathology procedure - Deletion analysis of low density lipoprotein receptor (LDLR) for evaluation of familial hypercholesterolemia


name: Level 6 molecular pathology procedure - Deletion analysis of myotubularin 1 (MTM1) for evaluation of X-linked centronuclear myopathy


name: Level 6 molecular pathology procedure - Deletion analysis of nephronophthisis 1 (juvenile) (NPHP1) for the evaluation of Joubert syndrome


name: Level 6 molecular pathology procedure - Deletion analysis of neurofibromin 2 (merlin) (NF2) for evaluation of neurofibromatosis, type 2


name: Level 6 molecular pathology procedure - Deletion analysis of nuclear receptor binding SET domain protein 1 (NSD1) for evaluation of Sotos syndrome


name: Level 6 molecular pathology procedure - Deletion analysis of platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1) for evaluation of Miller-Dieker syndrome


name: Level 6 molecular pathology procedure - Deletion analysis of platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1) for evaluation of lissencephaly


name: Level 6 molecular pathology procedure - Deletion analysis of propionyl CoA carboxylase, alpha polypeptide (PCCA) for evaluation of propionic acidemia, type 1


name: Level 6 molecular pathology procedure - Deletion analysis of pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1) for evaluation of lactic acidosis


name: Level 6 molecular pathology procedure - Deletion analysis of sarcoglycan, epsilon (SGCE) for evaluation of myoclonic dystonia


name: Level 6 molecular pathology procedure - Deletion analysis of spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7) for evaluation of spastic paraplegia


name: Level 6 molecular pathology procedure - Deletion analysis of spastin (SPAST) for evaluation of spastic paraplegia


name: Level 6 molecular pathology procedure - Deletion analysis of transcription factor 4 (TCF4) for evaluation of Pitt-Hopkins syndrome


name: Level 6 molecular pathology procedure - Deletion analysis of tuberous sclerosis 1 (TSC1) for evaluation of tuberous sclerosis


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of FtsJ RNA methyltransferase homolog 1 (E. coli) (FTSJ1) for evaluation of X-linked intellectual disability


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of Parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2) for evaluation of Parkinson disease


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of SMAD family member 4 (SMAD4) for evaluation of hemorrhagic telangiectasia syndrome


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of SMAD family member 4 (SMAD4) for evaluation of juvenile polyposis


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2) for evaluation of heritable pulmonary arterial hypertension


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of cyclin-dependent kinase-like 5 (CDKL5) for evaluation of early infantile epileptic encephalopathy


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of dihydrolipoamide branched chain transacylase E2 (DBT) for evaluation of maple syrup urine disease, type 2


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of endoglin (ENG) for the evaluation of hereditary hemorrhagic telangiectasia, type 1


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of eyes absent homolog 1 [Drosophila] (EYA1) for evaluation of branchio-oto-renal (BOR) spectrum disorders


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of low density lipoprotein receptor (LDLR) for evaluation of familial hypercholesterolemia


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of myotubularin 1 (MTM1) for evaluation of X-linked centronuclear myopathy


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of nephronophthisis 1 (juvenile) (NPHP1) for the evaluation of Joubert syndrome


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of neurofibromin 2 (merlin) (NF2) for evaluation of neurofibromatosis, type 2


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of nuclear receptor binding SET domain protein 1 (NSD1) for evaluation of Sotos syndrome


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1) for evaluation of Miller-Dieker syndrome


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1) for evaluation of lissencephaly


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of propionyl CoA carboxylase, alpha polypeptide (PCCA) for evaluation of propionic acidemia, type 1


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1) for evaluation of lactic acidosis


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7) for evaluation of spastic paraplegia


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of spastin (SPAST) for evaluation of spastic paraplegia


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of transcription factor 4 (TCF4) for evaluation of Pitt-Hopkins syndrome


name: Level 6 molecular pathology procedure - Deletion and duplication analysis of tuberous sclerosis 1 (TSC1) for evaluation of tuberous sclerosis


name: Level 6 molecular pathology procedure - Duplication analysis of FtsJ RNA methyltransferase homolog 1 (E. coli) (FTSJ1) for evaluation of X-linked intellectual disability


name: Level 6 molecular pathology procedure - Duplication analysis of Parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2) for evaluation of Parkinson disease


name: Level 6 molecular pathology procedure - Duplication analysis of SMAD family member 4 (SMAD4) for evaluation of hemorrhagic telangiectasia syndrome


name: Level 6 molecular pathology procedure - Duplication analysis of SMAD family member 4 (SMAD4) for evaluation of juvenile polyposis


name: Level 6 molecular pathology procedure - Duplication analysis of bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2) for evaluation of heritable pulmonary arterial hypertension


name: Level 6 molecular pathology procedure - Duplication analysis of cyclin-dependent kinase-like 5 (CDKL5) for evaluation of early infantile epileptic encephalopathy


name: Level 6 molecular pathology procedure - Duplication analysis of dihydrolipoamide branched chain transacylase E2 (DBT) for evaluation of maple syrup urine disease, type 2


name: Level 6 molecular pathology procedure - Duplication analysis of endoglin (ENG) for the evaluation of hereditary hemorrhagic telangiectasia, type 1


name: Level 6 molecular pathology procedure - Duplication analysis of eyes absent homolog 1 [Drosophila] (EYA1) for evaluation of branchio-oto-renal (BOR) spectrum disorders


name: Level 6 molecular pathology procedure - Duplication analysis of low density lipoprotein receptor (LDLR) for evaluation of familial hypercholesterolemia


name: Level 6 molecular pathology procedure - Duplication analysis of myotubularin 1 (MTM1) for evaluation of X-linked centronuclear myopathy


name: Level 6 molecular pathology procedure - Duplication analysis of nephronophthisis 1 (juvenile) (NPHP1) for the evaluation of Joubert syndrome


name: Level 6 molecular pathology procedure - Duplication analysis of neurofibromin 2 (merlin) (NF2) for evaluation of neurofibromatosis, type 2


name: Level 6 molecular pathology procedure - Duplication analysis of nuclear receptor binding SET domain protein 1 (NSD1) for evaluation of Sotos syndrome


name: Level 6 molecular pathology procedure - Duplication analysis of platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1) for evaluation of Miller-Dieker syndrome


name: Level 6 molecular pathology procedure - Duplication analysis of platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1) for evaluation of lissencephaly


name: Level 6 molecular pathology procedure - Duplication analysis of propionyl CoA carboxylase, alpha polypeptide (PCCA) for evaluation of propionic acidemia, type 1


name: Level 6 molecular pathology procedure - Duplication analysis of pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1) for evaluation of lactic acidosis


name: Level 6 molecular pathology procedure - Duplication analysis of sarcoglycan, epsilon (SGCE) for evaluation of myoclonic dystonia


name: Level 6 molecular pathology procedure - Duplication analysis of spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7) for evaluation of spastic paraplegia


name: Level 6 molecular pathology procedure - Duplication analysis of spastin (SPAST) for evaluation of spastic paraplegia


name: Level 6 molecular pathology procedure - Duplication analysis of transcription factor 4 (TCF4) for evaluation of Pitt-Hopkins syndrome


name: Level 6 molecular pathology procedure - Duplication analysis of tuberous sclerosis 1 (TSC1) for evaluation of tuberous sclerosis


name: Level 6 molecular pathology procedure - Duplication and deletion analysis of sarcoglycan, epsilon (SGCE) for evaluation of myoclonic dystonia


name: Level 6 molecular pathology procedure - Duplication/deletion analysis of variants of 11-25 exons


name: Level 6 molecular pathology procedure - Full gene sequence Kirsten rat sarcoma viral oncogene homolog (KRAS) for evaluation of Noonan syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis for evaluation of limb-girdle muscular dystrophy (LGMD)


name: Level 6 molecular pathology procedure - Full gene sequence analysis interleukin 2 receptor, gamma (IL2RG) for evaluation of X-linked severe combined immunodeficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of - BCS1-like (S. cerevisiae) (BCS1L) for evaluation of GRACILE syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of - BCS1-like (S. cerevisiae) (BCS1L) for evaluation of Leigh syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of - BCS1-like (S. cerevisiae) (BCS1L) for evaluation of mitochondrial complex III deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of ATP-binding cassette, subfamily D (ALD), member 1 (ABCD1) for evaluation of adrenoleukodystrophy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of Aprataxin (APTX) for evaluation of ataxia with oculomotor apraxia 1


name: Level 6 molecular pathology procedure - Full gene sequence analysis of COX10 homolog, cytochrome c oxidase assembly protein (COX10) for evaluation of mitochondrial respiratory chain complex IV deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of COX15 homolog, cytochrome c oxidase assembly protein (COX15) for evaluation of mitochondrial respiratory chain complex IV deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of Calsequestrin 2 (cardiac muscle) (CASQ2) for evaluation of catecholaminergic polymorphic ventricular tachycardia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of D 7-dehydrocholesterol reductase (DHCR7) for evaluation of Smith-Lemli-Opitz syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of GTP cyclohydrolase 1 (GCH1) for evaluation autosomal dominant dopa-responsive dystonia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of HNF1 homeobox A (HNF1A) for evaluation of maturity-onset diabetes of the young (MODY)


name: Level 6 molecular pathology procedure - Full gene sequence analysis of HNF1 homeobox B (HNF1B) for evaluation of maturity-onset diabetes of the young (MODY)


name: Level 6 molecular pathology procedure - Full gene sequence analysis of HtrA serine peptidase 1 (HTRA1) for evaluation of macular degeneration


name: Level 6 molecular pathology procedure - Full gene sequence analysis of NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7) for evaluation of Leigh syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7) for evaluation of mitochondrial complex I deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa [NADH-coenzyme Q reductase] (NDUFS8) for evaluation of evaluation of Leigh syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa [NADH-coenzyme Q reductase] (NDUFS8) for evaluation of mitochondrial complex I deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1) for evaluation of Leigh syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1) for evaluation of mitochondrial complex I deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of POU class 1 homeobox 1 (POU1F1) for evaluation of combined pituitary hormone deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of PTEN induced putative kinase 1 (PINK1) for the evaluation of Parkinson disease


name: Level 6 molecular pathology procedure - Full gene sequence analysis of Periaxin (PRX) for evaluation of Charcot-Marie-Tooth disease


name: Level 6 molecular pathology procedure - Full gene sequence analysis of RAB7A, member RAS oncogene family (RAB7A) for evaluation of Charcot-Marie-Tooth disease


name: Level 6 molecular pathology procedure - Full gene sequence analysis of SCO cytochrome oxidase deficient homolog 1 (SCO1) for evaluation of mitochondrial respiratory chain complex IV deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1) for evaluation of ataxia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of T-box 5 (TBX5) for evaluation of Holt-Oram syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of TAR DNA binding protein (TARDBP) for evaluation of amyotrophic lateral sclerosis


name: Level 6 molecular pathology procedure - Full gene sequence analysis of Wilms tumor 1 (WT1) for evaluation of Denys-Drash syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of Wilms tumor 1 (WT1) for evaluation of familial Wilms tumor


name: Level 6 molecular pathology procedure - Full gene sequence analysis of acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS) for evaluation of short chain acyl-CoA dehydrogenase deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of ankyrin repeat domain 1 (ANKRD1) for evaluation of dilated cardiomyopathy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of aprataxin (ACTC1) for evaluation of familial hypertrophic cardiomyopathy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of arylsulfatase A (ARSA) for evaluation of arylsulfatase A deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA) for evaluation of maple syrup urine disease, type 1A


name: Level 6 molecular pathology procedure - Full gene sequence analysis of calcium-sensing receptor (CASR) for evaluation of hypocalcemia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of cholinergic receptor, nicotinic, alpha 4 (CHRNA4) for evaluation of nocturnal frontal lobe epilepsy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2) for evaluation of nocturnal frontal lobe epilepsy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of chymotrypsin C (CTRC) for evaluation of hereditary pancreatitis


name: Level 6 molecular pathology procedure - Full gene sequence analysis of coproporphyrinogen oxidase (CPOX) for evaluation hereditary coproporphyria


name: Level 6 molecular pathology procedure - Full gene sequence analysis of cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1) for evaluation of congenital adrenal hyperplasia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1) full gene sequence analysis for evaluation of congenital adrenal hyperplasia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of cytochrome P450, family 21, subfamily A, polypeptide2 (CYP21A2) full gene sequence analysis for evaluation of congenital adrenal hyperplasia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of deafness, autosomal recessive 59 (DFNB59) for evaluation of autosomal recessive nonsyndromic hearing impairment


name: Level 6 molecular pathology procedure - Full gene sequence analysis of deoxyguanosine kinase (DGUOK) for evaluation of hepatocerebral mitochondrial DNA depletion syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of desmin (DES) for evaluation of myofibrillar myopathy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of doublecortin (DCX) for evaluation of X-linked lissencephaly


name: Level 6 molecular pathology procedure - Full gene sequence analysis of emerin (EMD) for evaluation of Emery-Dreifuss muscular dystrophy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2) for evaluation of leukoencephalopathy with vanishing white matter


name: Level 6 molecular pathology procedure - Full gene sequence analysis of fibroblast growth factor receptor 1 (FGFR1) for evaluation of Kallmann syndrome 2


name: Level 6 molecular pathology procedure - Full gene sequence analysis of fumarate hydratase (FH) for evaluation of fumarate hydratase deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of fumarate hydratase (FH) for evaluation of hereditary leiomyomatosis with renal cell cancer


name: Level 6 molecular pathology procedure - Full gene sequence analysis of galactosidase, alpha (GLA) for evaluation of Fabry disease


name: Level 6 molecular pathology procedure - Full gene sequence analysis of gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2) for evaluation of generalized epilepsy with febrile seizures


name: Level 6 molecular pathology procedure - Full gene sequence analysis of ganglioside-induced differentiation-associated protein 1 (GDAP1) for the evaluation of Charcot-Marie Tooth disease


name: Level 6 molecular pathology procedure - Full gene sequence analysis of glial fibrillary acidic protein (GFAP) for evaluation of fibrillary acidic protein


name: Level 6 molecular pathology procedure - Full gene sequence analysis of growth hormone receptor (GHR) for evaluation of Laron syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of growth hormone releasing hormone receptor (GHRHR) for evaluation of growth hormone deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of iduronate 2-sulfatase (IDS) for evaluation of mucopolysacchridosis, type II


name: Level 6 molecular pathology procedure - Full gene sequence analysis of isoprenoid synthase domain containing (ISPD) for evaluation of Walker-Warburg syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of isoprenoid synthase domain containing (ISPD) for evaluation of muscle-eye brain disease


name: Level 6 molecular pathology procedure - Full gene sequence analysis of lysosomal-associated membrane protein 2 (LAMP2) for evaluation of Danon disease


name: Level 6 molecular pathology procedure - Full gene sequence analysis of mannose phosphate isomerase (MPI) for evaluation of congenital disorder of glycosylation 1b


name: Level 6 molecular pathology procedure - Full gene sequence analysis of methylmalonic aciduria (cobalamine deficiency) type A (MMAA)for evaluation of MMAA-related methylmalonic acidemia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of methylmalonic aciduria (cobalamine deficiency) type B (MMAB) for evaluation of MMAA-related methylmalonic acidemia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of multiple endocrine neoplasia I (MEN1) for evaluation of Werner syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of multiple endocrine neoplasia I (MEN1) for evaluation of multiple endocrine neoplasia type 1


name: Level 6 molecular pathology procedure - Full gene sequence analysis of myosin, light chain 3, alkali, ventricular, skeletal (MYL3) for evaluation of familial hypertrophic cardiomyopathy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of myotilin (MYOT) for evaluation of limb-girdle muscular dystrophy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2) for the evaluation steroid-resistant nephrotic syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of neurofilament, light polypeptide (NEFL) for evaluation of Charcot-Marie-Tooth


name: Level 6 molecular pathology procedure - Full gene sequence analysis of neuroligin 3 (NLGN3) for evaluation of autism spectrum disorders


name: Level 6 molecular pathology procedure - Full gene sequence analysis of neuroligin 4, X-linked (NLGN4X) for evaluation of autism spectrum disorders


name: Level 6 molecular pathology procedure - Full gene sequence analysis of ornithine carbamoyltransferase (OTC) for the evaluation of ornithine transcarbamylase deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of polyglutamine binding protein 1 (PQBP1) for evaluation of Renpenning syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of presenilin 1 (PSEN1) for evaluation of Alzheimer disease


name: Level 6 molecular pathology procedure - Full gene sequence analysis of proteolipid protein 1 (PLP1) for evaluation of Pelizaeus-Merzbacher disease


name: Level 6 molecular pathology procedure - Full gene sequence analysis of proteolipid protein 1 (PLP1) for evaluation of spastic paraplegia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of pyruvate dehydrogenase [lipoamide] beta (PDHB) for evaluation of lactic acidosis


name: Level 6 molecular pathology procedure - Full gene sequence analysis of pyruvate kinase, liver and RBC (PKLR) for evaluation of pyruvate kinase deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of receptor accessory protein 1 (REEP1) for evaluation of spastic paraplegia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of retinoic acid induced 1 (RAI1) for evaluation of Smith-Magenis syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of ribonucleotide reductase M2 B (TP53 inducible) (RRM2B) for evaluation of mitochondrial DNA depletion


name: Level 6 molecular pathology procedure - Full gene sequence analysis of ribosomal protein S19 (RPS19) for evaluation of Diamond-Blackfan anemia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of rotocadherin 19 (PCDH19) for evaluation of epileptic encephalopathy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB) for evaluation of limb-girdle muscular dystrophy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD) for evaluation of limb-girdle muscular dystrophy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG) for evaluation of limb-girdle muscular dystrophy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of serine/threonine kinase 11 (STK11) for evaluation of Peutz-Jeghers syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of short stature homeobox (SHOX) for evaluation of Langer mesomelic dysplasia


name: Level 6 molecular pathology procedure - Full gene sequence analysis of soc-2 suppressor of clear homolog (SHOC2) for evaluation of (Noonan-like syndrome with loose antigen hair


name: Level 6 molecular pathology procedure - Full gene sequence analysis of solute carrier family 16, member 2 (thyroid hormone transporter) (SLC16A2) for evaluation of Allan-Herndon-Dudley syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of solute carrier family 16, member 2 (thyroid hormone transporter) (SLC16A2) for evaluation of specific thyroid hormone cell transporter deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) glucose transporter type 1 (GLUT1) deficiency syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20) for evaluation of carnitine-acylcarnitine translocase deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of sprouty-related, EVH1 domain containing 1 (SPRED1) for evaluation of Legius syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of succinate dehydrogenase complex, subunit B, iron sulfur (SDHB) for evaluation of hereditary paraganglioma


name: Level 6 molecular pathology procedure - Full gene sequence analysis of succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC) for evaluation of hereditary paraganglioma-pheochromocytoma syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of surfeit 1 (SURF1) for evaluation of mitochondrial respiratory chain complex IV deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of thymidine kinase 2, mitochondrial (TK2) for the evaluation of mitochondrial DNA depletion syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of thymidine phosphorylase (TYMP) for evaluation of mitochondrial DNA depletion syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of thyroid hormone receptor, beta (THRB) for the evaluation of thyroid hormone beta receptor deficiency


name: Level 6 molecular pathology procedure - Full gene sequence analysis of thyroid hormone receptor, beta (THRB) for the evaluation of thyroid hormone resistance


name: Level 6 molecular pathology procedure - Full gene sequence analysis of transforming growth factor, beta receptor 1 (TGFBR1) for evaluation of Marfan syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of transforming growth factor, beta receptor 2 (TGFBR2) for evaluation of Marfan syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis of tropomyosin 1 (alpha) (TPM1) for evaluation of familial hypertrophic cardiomyopathy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of troponin C type 1 (slow) (TNNC1) for evaluation of dilated cardiomyopathy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of troponin C type 1 (slow) (TNNC1) for evaluation of hypertrophic cardiomyopathy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of troponin I, type 3 (cardiac) (TNNI3) for evaluation of familial hypertrophic cardiomyopathy


name: Level 6 molecular pathology procedure - Full gene sequence analysis of zinc finger E-box binding homeobox 2 (ZEB2) for evaluation of Mowat-Wilson syndrome


name: Level 6 molecular pathology procedure - Full gene sequence analysis sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA) for the evaluation of limb-girdle muscular dystrophy


name: Level 6 molecular pathology procedure - Full gene sequence analysis solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5) for evaluation of systemic primary carnitine deficiency


name: Level 6 molecular pathology procedure - Full gene sequence of MpV17 mitochondrial inner membrane protein (MPV17) for evaluation of mitochondrial DNA depletion syndrome


name: Level 6 molecular pathology procedure - Full gene sequence procedure myosin, light chain 2, regulatory, cardiac, slow (MYL2) for evaluation familial hypertrophic cardiomyopathy


name: Level 6 molecular pathology procedure - MpV17 mitochondrial inner membrane protein (MPV17) full gene sequence analysis


name: Level 6 molecular pathology procedure - Mutation scanning of variants of 11-25 exons


name: Level 6 molecular pathology procedure - Myosin, light chain 3, alkali, ventricular, skeletal, slow (MYL3) full gene sequence analysis


name: Level 6 molecular pathology procedure - Nuclear receptor binding SET domain protein 1 (NSD1) deletion analysis


name: Level 6 molecular pathology procedure - Regionally targeted cytogenomic array analysis


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 10 of ret proto-oncogene (RET) for evaluation of familial medullary thyroid carcinoma


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 10 of ret proto-oncogene (RET) for evaluation of multiple endocrine neoplasia, type 2A


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 11 of ret proto-oncogene (RET) for evaluation of familial medullary thyroid carcinoma


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 11 of ret proto-oncogene (RET) for evaluation of multiple endocrine neoplasia, type 2A


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 12 of signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) for evaluation of autosomal dominant hyper-IgE syndrome


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 13 of ret proto-oncogene (RET) for evaluation of familial medullary thyroid carcinoma


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 13 of ret proto-oncogene (RET) for evaluation of multiple endocrine neoplasia, type 2A


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 13 of signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) for evaluation of autosomal dominant hyper-IgE syndrome


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 14 of ret proto-oncogene (RET) for evaluation of familial medullary thyroid carcinoma


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 14 of ret proto-oncogene (RET) for evaluation of multiple endocrine neoplasia, type 2A


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 14 of signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) for evaluation of autosomal dominant hyper-IgE syndrome


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 15 of ret proto-oncogene (RET) for evaluation of familial medullary thyroid carcinoma


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 15 of ret proto-oncogene (RET) for evaluation of multiple endocrine neoplasia, type 2A


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 16 of ret proto-oncogene (RET) for evaluation of familial medullary thyroid carcinoma


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 16 of ret proto-oncogene (RET) for evaluation of multiple endocrine neoplasia, type 2A


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 16 of signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) for evaluation of autosomal dominant hyper-IgE syndrome


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 17 of signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) for evaluation of autosomal dominant hyper-IgE syndrome


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 20 of signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) for evaluation of autosomal dominant hyper-IgE syndrome


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exon 21 of signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) for evaluation of autosomal dominant hyper-IgE syndrome


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exons 10, 11, and 13-16 of ret proto-oncogene (RET) for evaluation of familial medullary thyroid carcinoma


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exons 10, 11, and 13-16 of ret proto-oncogene (RET) for evaluation of multiple endocrine neoplasia, type 2A


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exons 12, 13, 14, 16, 17, 20, and 21 of signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) for evaluation of autosomal dominant hyper-IgE syndrome


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exons 18-20 and 23-25 of von Willebrand factor (VWF) for evaluation of von Willebrand disease, type 2N


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exons 18-20 of von Willebrand factor (VWF) for evaluation of von Willebrand disease, type 2N


name: Level 6 molecular pathology procedure - Targeted sequence analysis of exons 23-25 of von Willebrand factor (VWF) for evaluation of von Willebrand disease, type 2N


name: Level 6 molecular pathology procedure - Targeted sequence analysis of more than 5 exons of thyroid hormone receptor, beta (THRB) for evaluation of thyroid hormone resistance


name: Level 6 molecular pathology procedure - Targeted sequence analysis of more than 5 exons of thyroid hormone receptor, beta (THRB) for thyroid hormone beta receptor deficiency


name: Level 6 molecular pathology procedure - Targeted sequence analysis of ret proto-oncogene (RET) for evaluation of familial medullary thyroid carcinoma


name: Level 6 molecular pathology procedure - Targeted sequence analysis of ret proto-oncogene (RET) for evaluation of multiple endocrine neoplasia, type 2A


name: Level 6 molecular pathology procedure - Targeted sequence analysis of signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) for the evaluation of autosomal dominant hyper-IgE syndrome


name: Level 6 molecular pathology procedure - Tuberous sclerosis 1 (TSC1) deletion analysis


name: Level 6 molecular pathology procedure - Tuberous sclerosis 1 (TSC1) deletion and duplication analysis


name: Level 6 molecular pathology procedure - Tuberous sclerosis 1 (TSC1) duplication analysis


name: Level 6 molecular pathology procedure- Full gene sequence analysis of actin, alpha 2, smooth muscle, aorta (ACTA2) for evaluation of aortic dissections


name: Level 6 molecular pathology procedure- Full gene sequence analysis of actin, alpha 2, smooth muscle, aorta (ACTA2) for evaluation of thoracic aortic aneurysms


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


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


name: Molecular pathology procedure level 7 genetic analysis


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


name: Level 7 molecular pathology procedure - Analysis of 11-25 exons by DNA sequence analysis


name: Level 7 molecular pathology procedure - Anosmin-1 (ANOS1) full gene sequence analysis


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


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


name: Level 7 molecular pathology procedure - Autoimmune regulator (AIRE) full gene sequence analysis


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


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


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


name: Level 7 molecular pathology procedure - Bestrophin 1 (BEST1) full gene sequence analysis


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


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


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


name: Level 7 molecular pathology procedure - CREB binding protein (CREBBP) deletion analysis


name: Level 7 molecular pathology procedure - CREB binding protein (CREBBP) deletion and duplication analysis


name: Level 7 molecular pathology procedure - CREB binding protein (CREBBP) duplication analysis


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


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


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


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


name: Level 7 molecular pathology procedure - Coagulation factor VIII (F8) deletion analysis


name: Level 7 molecular pathology procedure - Coagulation factor VIII (F8) deletion and duplication analysis


name: Level 7 molecular pathology procedure - Coagulation factor VIII (F8) duplication analysis


name: Level 7 molecular pathology procedure - Collagen, type VI, alpha 2 (COL6A2) deletion analysis


name: Level 7 molecular pathology procedure - Collagen, type VI, alpha 2 (COL6A2) deletion and duplication analysis


name: Level 7 molecular pathology procedure - Collagen, type VI, alpha 2 (COL6A2) duplication analysis


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


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


name: Level 7 molecular pathology procedure - Deletion analysis of CREB binding protein (CREBBP) for evaluation of Rubinstein-Taybi syndrome


name: Level 7 molecular pathology procedure - Deletion analysis of coagulation factor VIII (F8) for evaluation of hemophilia A


name: Level 7 molecular pathology procedure - Deletion analysis of collagen, type VI, alpha 2 (COL6A2) for evaluation of collagen type VI-related disorders


name: Level 7 molecular pathology procedure - Deletion analysis of jagged 1 (JAG1) for evaluation of Alagille syndrome


name: Level 7 molecular pathology procedure - Deletion analysis of optic atrophy 1 (OPA1) for evaluation of optic atrophy


name: Level 7 molecular pathology procedure - Deletion analysis of protocadherin-related 15 (PCDH15) for evaluation of Usher syndrome type 1F


name: Level 7 molecular pathology procedure - Deletion analysis of tuberous sclerosis 2 (TSC2) for evaluation of tuberous sclerosis


name: Level 7 molecular pathology procedure - Deletion and detection analysis of tuberous sclerosis 2 (TSC2) for evaluation of tuberous sclerosis


name: Level 7 molecular pathology procedure - Deletion and duplication analysis of CREB binding protein (CREBBP) for evaluation of Rubinstein-Taybi syndrome


name: Level 7 molecular pathology procedure - Deletion and duplication analysis of coagulation factor VIII (F8) for evaluation of hemophilia A


name: Level 7 molecular pathology procedure - Deletion and duplication analysis of collagen, type VI, alpha 2 (COL6A2) for evaluation of collagen type VI-related disorders


name: Level 7 molecular pathology procedure - Deletion and duplication analysis of jagged 1 (JAG1) for evaluation of Alagille syndrome


name: Level 7 molecular pathology procedure - Deletion and duplication analysis of optic atrophy 1 (OPA1) for evaluation of optic atrophy


name: Level 7 molecular pathology procedure - Deletion and duplication analysis of protocadherin-related 15 (PCDH15) for evaluation of Usher syndrome type 1F


name: Level 7 molecular pathology procedure - Desmocollin (DSC2) full gene sequence analysis


name: Level 7 molecular pathology procedure - Desmoglein 2 (DSG2) full gene sequence analysis


name: Level 7 molecular pathology procedure - Desmoplakin (DSP) full gene sequence analysis


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


name: Level 7 molecular pathology procedure - Duplication analysis of CREB binding protein (CREBBP) for evaluation of Rubinstein-Taybi syndrome


name: Level 7 molecular pathology procedure - Duplication analysis of collagen, type VI, alpha 2 (COL6A2) for evaluation of collagen type VI-related disorders


name: Level 7 molecular pathology procedure - Duplication analysis of jagged 1 (JAG1) for evaluation of Alagille syndrome


name: Level 7 molecular pathology procedure - Duplication analysis of optic atrophy 1 (OPA1) for evaluation of optic atrophy


name: Level 7 molecular pathology procedure - Duplication analysis of protocadherin-related 15 (PCDH15) for evaluation of Usher syndrome type 1F


name: Level 7 molecular pathology procedure - Duplication and deletion analysis of variants of 26-50 exons


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


name: Level 7 molecular pathology procedure - Endoglin (ENG) full gene sequence analysis


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


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


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


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


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


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


name: Level 7 molecular pathology procedure - Full gene analysis of phosphorylase, glycogen, muscle (PYGM) for evaluation of McArdle disease


name: Level 7 molecular pathology procedure - Full gene analysis of phosphorylase, glycogen, muscle (PYGM) for evaluation of glycogen storage disease type V


name: Level 7 molecular pathology procedure - Full gene sequence analysis FtsJ RNA 2'-O-methyltransferase 1 for evaluation of X-linked intellectual disability 9


name: Level 7 molecular pathology procedure - Full gene sequence analysis of AFG3 ATPase family gene 3-like 2 [S. cerevisiae] (AFG3L2) for evaluation of spinocerebellar ataxia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of ATPase, Cu++ transporting, beta polypeptide (ATP7B) for evaluation of Wilson disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of Bardet-Biedl syndrome 1 (BBS1) for evaluation of Bardet-Biedl syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of Bardet-Biedl syndrome 2 (BBS2) for evaluation of Bardet-Biedl syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of Berardinelli-Seip congenital lipodystrophy 2 [seipin] (BSCL2) for evaluation of Berardinelli-Seip congenital lipodystrophy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of Dihydrolipoamide branched chain transacylase E2 (DBT) for evaluation of maple syrup urine disease, type 2


name: Level 7 molecular pathology procedure - Full gene sequence analysis of EF-hand domain [C-terminal] containing 1 (EFHC1) for evaluation of juvenile myoclonic epilepsy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of FAST kinase domains 2 (FASTKD2) for evaluation of mitochondrial respiratory chain complex IV deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of FIG4 homolog, SAC1 lipid phosphatase domain containing [S. cerevisiae] (FIG4) for evaluation of Charcot-Marie-Tooth disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of HLCS holocarboxylase synthetase (HLC) for the evaluation of holocarboxylase synthetase deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase [trifunctional protein] beta subunit (HADHB) for evaluation of trifunctional protein deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of LIM domain binding 3 (LDB3) for evaluation of familial dilated cardiomyopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of LIM domain binding 3 (LDB3) for evaluation of myofibrillar myopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of MutY homolog [E. coli] (MUTYH) for evaluation of MYH-associated polyposis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of NADH dehydrogenase [ubiquinone] Fe-S protein 1, 75kDa [NADH-coenzyme Q reductase] (NDUFS1) for evaluation of Leigh syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of NADH dehydrogenase [ubiquinone] Fe-S protein 1, 75kDa [NADH-coenzyme Q reductase] (NDUFS1) for evaluation of mitochondrial complex I deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of Niemann-Pick disease, type C1 (NPC1) for evaluation of Niemann-Pick disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of Parkinson protein 3, E3 ubiquitin protein ligase (parkin) (PARK2) for evaluation of Parkinson disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of SH3 domain and tetratricopeptide repeats 2 (SH3TC2) for evaluation of Charcot-Marie-Tooth disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of SMAD family member 4 (SMAD4) for evaluation of hemorrhagic telangiectasia syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of SMAD family member 4 (SMAD4) for evaluation of juvenile polyposis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of Wiskott-Aldrich syndrome [eczema-thrombocytopenia] (WAS) for evaluation Wiskott-Aldrich syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of actinin, alpha 4 (ACTN4) for evaluation of focal segmental glomerulosclerosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of acyl-CoA dehydrogenase, very long chain (ACADVL) for evaluation of very long chain acyl-coenzyme A dehydrogenase deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of aldehyde dehydrogenase 7 family, member A1 (ALDH7A1) for evaluation of pyridoxine-dependent epilepsy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of amyloid beta [A4] precursor protein (APP) for evaluation of Alzheimer disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of anoctamin 5 (ANO5) for evaluation of limb-girdle muscular dystrophy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of anosmin-1 (ANOS1) for the evaluation of Kallmann syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of argininosuccinate synthase 1 (ASS1) for the evaluation of citrullinemia type 1


name: Level 7 molecular pathology procedure - Full gene sequence analysis of atlastin GTPase 1 (ATL1) for the evaluation of spastic paraplegia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of autoimmune regulator (AIRE) for the evaluation of polyendocrinopathy syndrome type 1


name: Level 7 molecular pathology procedure - Full gene sequence analysis of bestrophin 1 (BEST1) for evaluation of vitelliform macular dystrophy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of bone morphogenetic protein receptor, type II [serine/threonine kinase] (BMPR2) for evaluation of hereditary pulmonary arterial hypertension


name: Level 7 molecular pathology procedure - Full gene sequence analysis of branched-chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB) for evaluation of maple syrup urine disease, type 1B


name: Level 7 molecular pathology procedure - Full gene sequence analysis of bruton agammaglobulinemia tyrosine kinase (BTK) for evaluation of X-linked agammaglobulinemia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of cadherin 1, type 1, E-cadherin [epithelial] (CDH1) for evaluation of hereditary diffuse gastric cancer


name: Level 7 molecular pathology procedure - Full gene sequence analysis of calcium channel, voltage-dependent, beta 2 subunit (CACNB2) for evaluation of Brugada syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of calpain 3 (CAPN3) full gene sequence analysis for evaluation of calpainopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of calpain 3 (CAPN3) full gene sequence analysis for evaluation of limb-girdle muscular dystrophy (LGMD) type 2A


name: Level 7 molecular pathology procedure - Full gene sequence analysis of carnitine palmitoyltransferase 1A [liver] (CPT1A) for evaluation of carnitine palmitoyltransferase 1A (CPT1A) deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of chloride channel 1, skeletal muscle (CLCN1) for evaluation of myotonia congenita


name: Level 7 molecular pathology procedure - Full gene sequence analysis of chloride channel, voltage-sensitive Kb (CLCNKB) for evaluation of Bartter syndrome 3


name: Level 7 molecular pathology procedure - Full gene sequence analysis of chloride channel, voltage-sensitive Kb (CLCNKB) for evaluation of Bartter syndrome 3 and 4b


name: Level 7 molecular pathology procedure - Full gene sequence analysis of chloride channel, voltage-sensitive Kb (CLCNKB) for evaluation of Bartter syndrome 4b


name: Level 7 molecular pathology procedure - Full gene sequence analysis of contactin-associated protein-like 2 (CNTNAP2) for evaluation of Pitt-Hopkins-like syndrome 1


name: Level 7 molecular pathology procedure - Full gene sequence analysis of crumbs homolog 1 [Drosophila] (CRB1) for evaluation of Leber congenital amaurosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of cyclin-dependent kinase-like 5 (CDKL5) for evaluation of early infantile epileptic encephalopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of cystathionine-beta-synthase (CBS) for evaluation of cystathionine beta-synthase deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of cystathionine-beta-synthase (CBS) for evaluation of homocystinuria


name: Level 7 molecular pathology procedure - Full gene sequence analysis of desmocollin (DSC2) for evaluation of arrhythmogenic right ventricular dysplasia/cardiomyopathy 11


name: Level 7 molecular pathology procedure - Full gene sequence analysis of desmoglein 2 (DSG2) for evaluation of arrhythmogenic right ventricular dysplasia/cardiomyopathy 10


name: Level 7 molecular pathology procedure - Full gene sequence analysis of desmoplakin (DSP) for evaluation of arrhythmogenic right ventricular dysplasia/cardiomyopathy 8


name: Level 7 molecular pathology procedure - Full gene sequence analysis of dihydrolipoamide S-acetyltransferase (DLAT) for evaluation of pyruvate dehydrogenase E2 deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of dihydrolipoamide dehydrogenase (DLD) for evaluation of maple syrup urine disease, type III


name: Level 7 molecular pathology procedure - Full gene sequence analysis of endoglin (ENG) for the evaluation of hereditary hemorrhagic telangiectasia, type 1


name: Level 7 molecular pathology procedure - Full gene sequence analysis of eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3) for the evaluation of leukoencephalopathy with vanishing white matter


name: Level 7 molecular pathology procedure - Full gene sequence analysis of eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4) leukoencephalopathy with vanishing white matter


name: Level 7 molecular pathology procedure - Full gene sequence analysis of eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5) for evaluation of childhood ataxia with central nervous system hypomyelination/vanishing white matter


name: Level 7 molecular pathology procedure - Full gene sequence analysis of eyes absent homolog 1 [Drosophila] (EYA1) for evaluation of branchio-oto-renal [BOR] spectrum disorders


name: Level 7 molecular pathology procedure - Full gene sequence analysis of fumarylacetoacetate hydrolase [fumarylacetoacetase] (FAH) for evaluation of tyrosinemia, type 1


name: Level 7 molecular pathology procedure - Full gene sequence analysis of fused in sarcoma (FUS) for evaluation of amyotrophic lateral sclerosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of galactose-1-phosphate uridylyltransferase (GALT) for evaluation of galactosemia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of galactosylceramidase (GALC) for evaluation of Krabbe disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of glucokinase [hexokinase 4] (GCK) for the evaluation of maturity-onset diabetes of the young (MODY)


name: Level 7 molecular pathology procedure - Full gene sequence analysis of glucosamine [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine kinase (GNE) for evaluation of Nonaka myopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of glucosamine [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine kinase (GNE) for evaluation of inclusion body myopathy 2 (IBM2)


name: Level 7 molecular pathology procedure - Full gene sequence analysis of glucosidase, alpha; acid (GAA) for evaluation of glycogen storage disease type II (Pompe disease)


name: Level 7 molecular pathology procedure - Full gene sequence analysis of glutamate dehydrogenase 1 (GLUD1) for evaluation of familial hyperinsulinism


name: Level 7 molecular pathology procedure - Full gene sequence analysis of glutaryl-CoA dehydrogenase (GCDH) for the evaluation of glutaricacidemia type 1


name: Level 7 molecular pathology procedure - Full gene sequence analysis of glycyl-tRNA synthetase (GARS) for the evaluation of Charcot-Marie-Tooth disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of granulin (GRN) for the evaluation of frontotemporal dementia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of hexosaminidase A, alpha polypeptide (HEXA) for the evaluation of Tay-Sachs disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase [trifunctional protein] alpha subunit (HADHA) for evaluation of long chain acyl-coenzyme A dehydrogenase deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of hydroxymethylbilane synthase (HMBS) for the evaluation of acute intermittent porphyria


name: Level 7 molecular pathology procedure - Full gene sequence analysis of iduronidase, alpha-L- (IDUA) for evaluation of mucopolysaccharidosis type I


name: Level 7 molecular pathology procedure - Full gene sequence analysis of inverted formin, FH2 and WH2 domain containing (INF2) for evaluation of focal segmental glomerulosclerosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of isovaleryl-CoA dehydrogenase (IVD) for the evaluation of isovaleric acidemia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of junction plakoglobin (JUP) for evaluation of arrhythmogenic right ventricular dysplasia/cardiomyopathy 11


name: Level 7 molecular pathology procedure - Full gene sequence analysis of lamin A/C (LMNA) for evaluation of Emery-Dreifuss muscular dystrophy (EDMD 1, 2 and 3)


name: Level 7 molecular pathology procedure - Full gene sequence analysis of lamin A/C (LMNA) for evaluation of dilated cardiomyopathy (CMD1A)


name: Level 7 molecular pathology procedure - Full gene sequence analysis of lamin A/C (LMNA) for evaluation of familial partial lipodystrophy (FPLD2)


name: Level 7 molecular pathology procedure - Full gene sequence analysis of lamin A/C (LMNA) for evaluation of limb-girdle muscular dystrophy (LGMD) type 1B


name: Level 7 molecular pathology procedure - Full gene sequence analysis of leptin receptor (LEPR) for the evaluation of obesity with hypogonadism


name: Level 7 molecular pathology procedure - Full gene sequence analysis of low density lipoprotein receptor (LDLR) for evaluation of familial hypercholesterolemia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of low density lipoprotein receptor-related protein 5 (LRP5) for evaluation of osteopetrosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of luteinizing hormone/choriogonadotropin receptor (LHCGR) for evaluation of precocious male puberty


name: Level 7 molecular pathology procedure - Full gene sequence analysis of methylcrotonoyl-CoA carboxylase 1 [alpha] (MCCC1) for evaluation of 3-methylcrotonyl-CoA carboxylase deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of methylcrotonoyl-CoA carboxylase 2 [beta] (MCCC2) for evaluation of 3-methylcrotonyl carboxylase deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of methylmalonyl CoA mutase (MUT) for evaluation of methylmalonic acidemia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of microtubule-associated protein tau (MAPT) for evaluation of frontotemporal dementia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of mitogen-activated protein kinase 1 (MAP2K1) for the evaluation of cardiofaciocutaneous syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of mitogen-activated protein kinase 2 (MAP2K2) for evaluation of cardiofaciocutaneous syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of myotubularin 1 (MTM1) for evaluation of X-linked centronuclear myopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of nephronophthisis 1 [juvenile] (NPHP1) for evaluation of Joubert syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of neurofibromin 2 [merlin](NF2) for evaluation of neurofibromatosis, type 2


name: Level 7 molecular pathology procedure - Full gene sequence analysis of nuclear receptor binding SET domain protein 1 (NSD1) for evaluation of Sotos syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of optineurin (OPTN) for evaluation of amyotrophic lateral sclerosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of paired box 2 (PAX2) for evaluation of renal coloboma syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of paroxysmal nonkinesigenic dyskinesia (PNKD) for the evaluation of paroxysmal nonkinesigenic dyskinesia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of phenylalanine hydroxylase (PAH) for evaluation of phenylketonuria


name: Level 7 molecular pathology procedure - Full gene sequence analysis of phosphate-regulating endopeptidase homolog, X-linked (PHEX) for evaluation of hypophosphatemic rickets


name: Level 7 molecular pathology procedure - Full gene sequence analysis of plakophilin 2 (PKP2) for evaluation of arrhythmogenic right ventricular dysplasia/cardiomyopathy 9


name: Level 7 molecular pathology procedure - Full gene sequence analysis of platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 [45kDa] (PAFAH1B1) for evaluation of Miller-Dieker syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 [45kDa] (PAFAH1B1) for evaluation of lissencephaly


name: Level 7 molecular pathology procedure - Full gene sequence analysis of polycystic kidney disease 2 [autosomal dominant] (PKD2) polycystic kidney disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of polymerase [DNA directed], gamma (POLG) for evaluation of Alpers-Huttenlocher syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of polymerase [DNA directed], gamma (POLG) for evaluation of autosomal dominant progressive external ophthalmoplegia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) for evaluation of long QT syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) for evaluation of short QT syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2) for evaluation of epileptic encephalopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of potassium voltage-gated channel, subfamily H [eag-related], member 2 (KCNH2) for evaluation of long QT syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of potassium voltage-gated channel, subfamily H [eag-related], member 2 (KCNH2) for evaluation of short QT syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of presenilin 2 [Alzheimer disease 4] (PSEN2) for evaluation of Alzheimer disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of propionyl CoA carboxylase, alpha polypeptide (PCCA) for evaluation of propionic acidemia, type 1


name: Level 7 molecular pathology procedure - Full gene sequence analysis of propionyl CoA carboxylase, beta polypeptide (PCCB) for evaluation of propionic acidemia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of proprotein convertase subtilisin/kexin type 9 (PCSK9) for evaluation of familial hypercholesterolemia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein O-linked mannose beta1,2-N acetylglucosaminyltransferase (POMGNT1) for evaluation of Walker-Warburg syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein O-linked mannose beta1,2-N acetylglucosaminyltransferase (POMGNT1) for evaluation of muscle-eye-brain disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein kinase C, gamma (PRKCG) for evaluation of spinocerebellar ataxia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein kinase, AMP-activated, gamma 2 noncatalytic subunit (PRKAG2) for evaluation of familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein kinase, AMP-activated, gamma 2 noncatalytic subunit (PRKAG2) for evaluation of lethal congenital glycogen storage disease of heart


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein tyrosine phosphatase, non-receptor type 11 (PTPN11) for evaluation of LEOPARD syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein tyrosine phosphatase, non-receptor type 11 (PTPN11) for evaluation of Noonan syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein-O-mannosyltransferase 1 (POMT1) for evaluation of Walker-Warburg syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein-O-mannosyltransferase 1 (POMT1) for evaluation of limb-girdle muscular dystrophy (LGMD) type 2K


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein-O-mannosyltransferase 2 (POMT2) for evaluation of Walker-Warburg syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protein-O-mannosyltransferase 2 (POMT2) for evaluation of limb-girdle muscular dystrophy (LGMD) type 2N


name: Level 7 molecular pathology procedure - Full gene sequence analysis of protoporphyrinogen oxidase (PPOX) for evaluation of variegate porphyria


name: Level 7 molecular pathology procedure - Full gene sequence analysis of pyruvate carboxylase (PC) for evaluation of pyruvate carboxylase deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of pyruvate dehydrogenase [lipoamide] alpha 1 (PDHA1) for evaluation of lactic acidosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of pyruvate dehydrogenase complex, component X (PDHX) lactic acidosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of ret proto-oncogene (RET) for evaluation of Hirschsprung disease


name: Level 7 molecular pathology procedure - Full gene sequence analysis of retinal pigment epithelium-specific protein 65kDa (RPE65) for evaluation of Leber congenital amaurosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of retinal pigment epithelium-specific protein 65kDa (RPE65) for evaluation of retinitis pigmentosa


name: Level 7 molecular pathology procedure - Full gene sequence analysis of sarcoglycan, epsilon (SGCE) for evaluation of myoclonic dystonia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of senataxin (SETX) for the evaluation of ataxia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of sodium channel, nonvoltage-gated 1 alpha (SCNN1A) for evaluation of pseudohypoaldosteronism


name: Level 7 molecular pathology procedure - Full gene sequence analysis of sodium channel, nonvoltage-gated 1, beta (SCNN1B) for evaluation of Liddle syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of sodium channel, nonvoltage-gated 1, beta (SCNN1B) for evaluation of pseudohypoaldosteronism


name: Level 7 molecular pathology procedure - Full gene sequence analysis of sodium channel, nonvoltage-gated 1, gamma (SCNN1G) for evaluation of Liddle syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of sodium channel, nonvoltage-gated 1, gamma (SCNN1G) for evaluation of pseudohypoaldosteronism


name: Level 7 molecular pathology procedure - Full gene sequence analysis of sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) for evaluation of hyperkalemic periodic paralysis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of solute carrier family 26, member 4 (SLC26A4) for evaluation of Pendred syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of solute carrier family 37 (glucose-6-phosphate transporter) member 4 (SLC37A4) for the evaluation of glycogen storage disease type Ib


name: Level 7 molecular pathology procedure - Full gene sequence analysis of solute carrier family 9 [sodium/hydrogen exchanger], member 6 (SLC9A6) for evaluation of Christianson syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of son of sevenless homolog 1 (SOS1) for evaluation of Noonan syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of son of sevenless homolog 1 (SOS1) for evaluation of gingival fibromatosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of spastic paraplegia 7 [pure and complicated autosomal recessive] (SPG7) for evaluation of spastic paraplegia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of spastin (SPAST) for evaluation of spastic paraplegia


name: Level 7 molecular pathology procedure - Full gene sequence analysis of succinate dehydrogenase complex, subunit A, flavoprotein [Fp] (SDHA) for evaluation of Leigh syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of succinate dehydrogenase complex, subunit A, flavoprotein [Fp] (SDHA) for evaluation of mitochondrial complex II deficiency


name: Level 7 molecular pathology procedure - Full gene sequence analysis of syntaxin-binding protein 1 (STXBP1) for evaluation of epileptic encephalopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of tafazzin (TAZ) for evaluation of Barth syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of tafazzin (TAZ) for evaluation of methylglutaconic aciduria type 2


name: Level 7 molecular pathology procedure - Full gene sequence analysis of transcription factor 4 (TCF4) for evaluation of Pitt-Hopkins syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of transient receptor potential cation channel, subfamily C, member 6 (TRPC6) for evaluation of focal segmental glomerulosclerosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of transmembrane protein 43 (TMEM43) for evaluation of arrhythmogenic right ventricular cardiomyopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of troponin T, type 2 [cardiac] (TNNT2) for evaluation of familial hypertrophic cardiomyopathy


name: Level 7 molecular pathology procedure - Full gene sequence analysis of tuberous sclerosis 1 (TSC1) for evaluation of tuberous sclerosis


name: Level 7 molecular pathology procedure - Full gene sequence analysis of tyrosine hydroxylase (TH) for evaluation of Segawa syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of ubiquitin protein ligase E3A (UBE3A) for evaluation of Angelman syndrome


name: Level 7 molecular pathology procedure - Full gene sequence analysis of uromodulin (UMOD) for evaluation of glomerulocystic kidney disease with hyperuricemia and isosthenuria


name: Level 7 molecular pathology procedure - Full gene sequence analysis of v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) for evaluation of LEOPARD syndrome


name: Level 7 molecular pathology procedure - Full gene sequence of ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2) for evaluation of familial hemiplegic migraine


name: Level 7 molecular pathology procedure - Full sequence analysis of hepatocyte nuclear factor 4, alpha (HNF4A) for the evaluation of maturity-onset diabetes of the young (MODY)


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


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


name: Level 7 molecular pathology procedure - Galactosylceramidase (GALC) full gene sequence analysis


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


name: Level 7 molecular pathology procedure - Glutamate dehydrogenase 1 (GLUD1) full gene sequence analysis


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


name: Level 7 molecular pathology procedure - Granulin (GRN) full gene sequence analysis


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


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


name: Level 7 molecular pathology procedure - Hydroxymethylbilane synthase (HMBS) full gene sequence analysis


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


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


name: Level 7 molecular pathology procedure - Jagged 1 (JAG1) deletion analysis


name: Level 7 molecular pathology procedure - Jagged 1 (JAG1) deletion and duplication analysis


name: Level 7 molecular pathology procedure - Jagged 1 (JAG1) duplication analysis


name: Level 7 molecular pathology procedure - Junction plakoglobin (JUP) full gene sequence analysis


name: Level 7 molecular pathology procedure - Leptin receptor (LEPR) full gene sequence analysis


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


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


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


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


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


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


name: Level 7 molecular pathology procedure - Mitofusin 2 (MFN2) full gene sequence analysis


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


name: Level 7 molecular pathology procedure - Mutation scanning of variants of 26-50 exons


name: Level 7 molecular pathology procedure - Myotubularin 1 (MTM1) full gene sequence analysis


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


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


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


name: Level 7 molecular pathology procedure - Optic atrophy 1 (OPA1) deletion analysis


name: Level 7 molecular pathology procedure - Optic atrophy 1 (OPA1) deletion and duplication analysis


name: Level 7 molecular pathology procedure - Optic atrophy 1 (OPA1) duplication analysis


name: Level 7 molecular pathology procedure - Optineurin (OPTN) full gene sequence analysis


name: Level 7 molecular pathology procedure - Parkinson protein 3, E3 ubiquitin protein ligase (parkin) (PARK2) full gene sequence analysis


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


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


name: Level 7 molecular pathology procedure - Plakophilin 2 (PKP2) full gene sequence analysis


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


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


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


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


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


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


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


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


name: Level 7 molecular pathology procedure - Protocadherin-related 15 (PCDH15) deletion analysis


name: Level 7 molecular pathology procedure - Protocadherin-related 15 (PCDH15) deletion and duplication analysis


name: Level 7 molecular pathology procedure - Protocadherin-related 15 (PCDH15) duplication analysis


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


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


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


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


name: Level 7 molecular pathology procedure - Senataxin (SETX) full gene sequence analysis


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


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


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


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


name: Level 7 molecular pathology procedure - Solute carrier family 37 (glucose-6-phosphate transporter) member 4 (SLC37A4) full gene sequence analysis


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


name: Level 7 molecular pathology procedure - Spastin (SPAST) full gene sequence analysis


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


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


name: Level 7 molecular pathology procedure - Targeted sequence analysis of exon 11-16 of von Willebrand factor (VWF) for the evaluation of von Willebrand disease type 2A


name: Level 7 molecular pathology procedure - Targeted sequence analysis of exon 24-26 of von Willebrand factor (VWF) for the evaluation of von Willebrand disease type 2A


name: Level 7 molecular pathology procedure - Targeted sequence analysis of exon 51 of von Willebrand factor (VWF) for the evaluation of von Willebrand disease type 2A


name: Level 7 molecular pathology procedure - Targeted sequence analysis of exon 52 of von Willebrand factor (VWF) for the evaluation of von Willebrand disease type 2A


name: Level 7 molecular pathology procedure - Targeted sequence analysis of exons 1-23 of notch 3 (NOTCH3) for evaluation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)


name: Level 7 molecular pathology procedure - Targeted sequence analysis of notch 3 (NOTCH3) for evaluation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)


name: Level 7 molecular pathology procedure - Targeted sequence analysis of ryanodine receptor 1, skeletal (RYR1) of exons with functionally-confirmed mutations for evaluation of malignant hyperthermia


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


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


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


name: Level 7 molecular pathology procedure - Tuberous sclerosis 2 (TSC2) deletion analysis


name: Level 7 molecular pathology procedure - Tuberous sclerosis 2 (TSC2) deletion and detection analysis


name: Level 7 molecular pathology procedure - Tuberous sclerosis 2 (TSC2) detection analysis


name: Level 7 molecular pathology procedure - Tyrosine hydroxylase (TH) full gene sequence analysis


name: Level 7 molecular pathology procedure - Uromodulin (UMOD) full gene sequence analysis


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


name: Level 7 molecular pathology procedure -Detection analysis of tuberous sclerosis 2 (TSC2) for evaluation of tuberous sclerosis


name: Level 7 molecular pathology procedure -Duplication analysis of coagulation factor VIII (F8) for evaluation of hemophilia A


name: Level 7 molecular pathology procedure Full gene sequence analysis of mitofusin 2 (MFN2) for evaluation of Charcot-Marie-Tooth disease


name: Level 7 molecular pathology procedure- Protoporphyrinogen oxidase (PPOX) full gene sequence analysis


name: Molecular pathology procedure level 8 genetic analysis


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


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


name: Level 8 molecular pathology procedure - Analysis of 26-50 exons by DNA sequence analysis


name: Level 8 molecular pathology procedure - Asp (abnormal spindle homolog) microcephaly associated (Drosophilia) (ASPM) full gene sequence analysis


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


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


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


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


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


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


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


name: Level 8 molecular pathology procedure - Collagen, type VI, alpha 3 (COL6A3) full gene sequence analysis


name: Level 8 molecular pathology procedure - Deletion analysis of collagen, type IV, alpha 5 (COL4A5) for evaluation of Alport syndrome


name: Level 8 molecular pathology procedure - Deletion analysis of vacuolar protein sorting 13 homolog B (yeast) (VPS13B) for evaluation of Cohen syndrome


name: Level 8 molecular pathology procedure - Deletion and duplication analysis of collagen, type IV, alpha 5 (COL4A5) for evaluation of Alport syndrome


name: Level 8 molecular pathology procedure - Deletion and duplication analysis of vacuolar protein sorting 13 homolog B (yeast) (VPS13B) for evaluation of Cohen syndrome


name: Level 8 molecular pathology procedure - Duplication analysis of collagen, type IV, alpha 5 (COL4A5) for evaluation of Alport syndrome


name: Level 8 molecular pathology procedure - Duplication analysis of vacuolar protein sorting 13 homolog B (yeast) (VPS13B) for evaluation of Cohen syndrome