Molecular pathology procedure, Level 6 (eg, analysis of 6-10 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 11-25 exons, regionally targeted cytogenomic array analysis)
ABCD1 (ATP-binding cassette, sub-family D [ALD], member 1) (eg, adrenoleukodystrophy), full gene sequence
ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain) (eg, short chain acyl-CoA dehydrogenase deficiency), full gene sequence
ACTA2 (actin, alpha 2, smooth muscle, aorta) (eg, thoracic aortic aneurysms and aortic dissections), full gene sequence
ACTC1 (actin, alpha, cardiac muscle 1) (eg, familial hypertrophic cardiomyopathy), full gene sequence
ANKRD1 (ankyrin repeat domain 1) (eg, dilated cardiomyopathy), full gene sequence
APTX (aprataxin) (eg, ataxia with oculomotor apraxia 1), full gene sequence
ARSA (arylsulfatase A) (eg, arylsulfatase A deficiency), full gene sequence
BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide) (eg, maple syrup urine disease, type 1A), full gene sequence
BCS1L (BCS1-like [S. cerevisiae]) (eg, Leigh syndrome, mitochondrial complex III deficiency, GRACILE syndrome), full gene sequence
BMPR2 (bone morphogenetic protein receptor, type II [serine/threonine kinase]) (eg, heritable pulmonary arterial hypertension), duplication/deletion analysis
CASQ2 (calsequestrin 2 [cardiac muscle]) (eg, catecholaminergic polymorphic ventricular tachycardia), full gene sequence
CASR (calcium-sensing receptor) (eg, hypocalcemia), full gene sequence
CDKL5 (cyclin-dependent kinase-like 5) (eg, early infantile epileptic encephalopathy), duplication/deletion analysis
CHRNA4 (cholinergic receptor, nicotinic, alpha 4) (eg, nocturnal frontal lobe epilepsy), full gene sequence
CHRNB2 (cholinergic receptor, nicotinic, beta 2 [neuronal]) (eg, nocturnal frontal lobe epilepsy), full gene sequence
COX10 (COX10 homolog, cytochrome c oxidase assembly protein) (eg, mitochondrial respiratory chain complex IV deficiency), full gene sequence
COX15 (COX15 homolog, cytochrome c oxidase assembly protein) (eg, mitochondrial respiratory chain complex IV deficiency), full gene sequence
CPOX (coproporphyrinogen oxidase) (eg, hereditary coproporphyria), full gene sequence
CTRC (chymotrypsin C) (eg, hereditary pancreatitis), full gene sequence
CYP11B1 (cytochrome P450, family 11, subfamily B, polypeptide 1) (eg, congenital adrenal hyperplasia), full gene sequence
CYP17A1 (cytochrome P450, family 17, subfamily A, polypeptide 1) (eg, congenital adrenal hyperplasia), full gene sequence
CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide2) (eg, steroid 21-hydroxylase isoform, congenital adrenal hyperplasia), full gene sequence
Cytogenomic constitutional targeted microarray analysis of chromosome 22q13 by interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities
(When performing cytogenomic [genome-wide] analysis for constitutional chromosomal abnormalities, see 81228, 81229, 81349)
(Do not report analyte-specific molecular pathology procedures separately when the specific analytes are included as part of the microarray analysis of chromosome 22q13)
(Do not report 88271 when performing cytogenomic microarray analysis)
DBT (dihydrolipoamide branched chain transacylase E2) (eg, maple syrup urine disease, type 2), duplication/deletion analysis
DCX (doublecortin) (eg, X-linked lissencephaly), full gene sequence
DES (desmin) (eg, myofibrillar myopathy), full gene sequence
DFNB59 (deafness, autosomal recessive 59) (eg, autosomal recessive nonsyndromic hearing impairment), full gene sequence
DGUOK (deoxyguanosine kinase) (eg, hepatocerebral mitochondrial DNA depletion syndrome), full gene sequence
DHCR7 (7-dehydrocholesterol reductase) (eg, Smith-Lemli-Opitz syndrome), full gene sequence
EIF2B2 (eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa) (eg, leukoencephalopathy with vanishing white matter), full gene sequence
EMD (emerin) (eg, Emery-Dreifuss muscular dystrophy), full gene sequence
ENG (endoglin) (eg, hereditary hemorrhagic telangiectasia, type 1), duplication/deletion analysis
EYA1 (eyes absent homolog 1 [Drosophila]) (eg, branchio-oto-renal [BOR] spectrum disorders), duplication/deletion analysis
FGFR1 (fibroblast growth factor receptor 1) (eg, Kallmann syndrome 2), full gene sequence
FH (fumarate hydratase) (eg, fumarate hydratase deficiency, hereditary leiomyomatosis with renal cell cancer), full gene sequence
FKTN (fukutin) (eg, limb-girdle muscular dystrophy [LGMD] type 2M or 2L), full gene sequence
FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1) (eg, X-linked intellectual disability 9), duplication/deletion analysis
GABRG2 (gamma-aminobutyric acid [GABA] A receptor, gamma 2) (eg, generalized epilepsy with febrile seizures), full gene sequence
GCH1 (GTP cyclohydrolase 1) (eg, autosomal dominant dopa-responsive dystonia), full gene sequence
GDAP1 (ganglioside-induced differentiation-associated protein 1) (eg, Charcot-Marie-Tooth disease), full gene sequence
GFAP (glial fibrillary acidic protein) (eg, Alexander disease), full gene sequence
GHR (growth hormone receptor) (eg, Laron syndrome), full gene sequence
GHRHR (growth hormone releasing hormone receptor) (eg, growth hormone deficiency), full gene sequence
GLA (galactosidase, alpha) (eg, Fabry disease), full gene sequence
HNF1A (HNF1 homeobox A) (eg, maturity-onset diabetes of the young [MODY]), full gene sequence
HNF1B (HNF1 homeobox B) (eg, maturity-onset diabetes of the young [MODY]), full gene sequence
HTRA1 (HtrA serine peptidase 1) (eg, macular degeneration), full gene sequence
IDS (iduronate 2-sulfatase) (eg, mucopolysacchridosis, type II), full gene sequence
IL2RG (interleukin 2 receptor, gamma) (eg, X-linked severe combined immunodeficiency), full gene sequence
ISPD (isoprenoid synthase domain containing) (eg, muscle-eye-brain disease, Walker-Warburg syndrome), full gene sequence
KRAS (Kirsten rat sarcoma viral oncogene homolog) (eg, Noonan syndrome), full gene sequence
LAMP2 (lysosomal-associated membrane protein 2) (eg, Danon disease), full gene sequence
LDLR (low density lipoprotein receptor) (eg, familial hypercholesterolemia), duplication/deletion analysis
MEN1 (multiple endocrine neoplasia I) (eg, multiple endocrine neoplasia type 1, Wermer syndrome), full gene sequence
MMAA (methylmalonic aciduria [cobalamine deficiency] type A) (eg, MMAA-related methylmalonic acidemia), full gene sequence
MMAB (methylmalonic aciduria [cobalamine deficiency] type B) (eg, MMAA-related methylmalonic acidemia), full gene sequence
MPI (mannose phosphate isomerase) (eg, congenital disorder of glycosylation 1b), full gene sequence
MPV17 (MpV17 mitochondrial inner membrane protein) (eg, mitochondrial DNA depletion syndrome), full gene sequence
MPZ (myelin protein zero) (eg, Charcot-Marie-Tooth), full gene sequence
MTM1 (myotubularin 1) (eg, X-linked centronuclear myopathy), duplication/deletion analysis
MYL2 (myosin, light chain 2, regulatory, cardiac, slow) (eg, familial hypertrophic cardiomyopathy), full gene sequence
MYL3 (myosin, light chain 3, alkali, ventricular, skeletal, slow) (eg, familial hypertrophic cardiomyopathy), full gene sequence
MYOT (myotilin) (eg, limb-girdle muscular dystrophy), full gene sequence
NDUFS7 (NADH dehydrogenase [ubiquinone] Fe-S protein 7, 20kDa [NADH-coenzyme Q reductase]) (eg, Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NDUFS8 (NADH dehydrogenase [ubiquinone] Fe-S protein 8, 23kDa [NADH-coenzyme Q reductase]) (eg, Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NDUFV1 (NADH dehydrogenase [ubiquinone] flavoprotein 1, 51kDa) (eg, Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NEFL (neurofilament, light polypeptide) (eg, Charcot-Marie-Tooth), full gene sequence
NF2 (neurofibromin 2 [merlin]) (eg, neurofibromatosis, type 2), duplication/deletion analysis
NLGN3 (neuroligin 3) (eg, autism spectrum disorders), full gene sequence
NLGN4X (neuroligin 4, X-linked) (eg, autism spectrum disorders), full gene sequence
NPHP1 (nephronophthisis 1 [juvenile]) (eg, Joubert syndrome), deletion analysis, and duplication analysis, if performed
NPHS2 (nephrosis 2, idiopathic, steroid-resistant [podocin]) (eg, steroid-resistant nephrotic syndrome), full gene sequence
NSD1 (nuclear receptor binding SET domain protein 1) (eg, Sotos syndrome), duplication/deletion analysis
OTC (ornithine carbamoyltransferase) (eg, ornithine transcarbamylase deficiency), full gene sequence
PAFAH1B1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 [45kDa]) (eg, lissencephaly, Miller-Dieker syndrome), duplication/deletion analysis
PARK2 (Parkinson protein 2, E3 ubiquitin protein ligase [parkin]) (eg, Parkinson disease), duplication/deletion analysis
PCCA (propionyl CoA carboxylase, alpha polypeptide) (eg, propionic acidemia, type 1), duplication/deletion analysis
PCDH19 (protocadherin 19) (eg, epileptic encephalopathy), full gene sequence
PDHA1 (pyruvate dehydrogenase [lipoamide] alpha 1) (eg, lactic acidosis), duplication/deletion analysis
PDHB (pyruvate dehydrogenase [lipoamide] beta) (eg, lactic acidosis), full gene sequence
PINK1 (PTEN induced putative kinase 1) (eg, Parkinson disease), full gene sequence
PKLR (pyruvate kinase, liver and RBC) (eg, pyruvate kinase deficiency), full gene sequence
PLP1 (proteolipid protein 1) (eg, Pelizaeus-Merzbacher disease, spastic paraplegia), full gene sequence
POU1F1 (POU class 1 homeobox 1) (eg, combined pituitary hormone deficiency), full gene sequence
PRX (periaxin) (eg, Charcot-Marie-Tooth disease), full gene sequence
PQBP1 (polyglutamine binding protein 1) (eg, Renpenning syndrome), full gene sequence
PSEN1 (presenilin 1) (eg, Alzheimer disease), full gene sequence
RAB7A (RAB7A, member RAS oncogene family) (eg, Charcot-Marie-Tooth disease), full gene sequence
RAI1 (retinoic acid induced 1) (eg, Smith-Magenis syndrome), full gene sequence
REEP1 (receptor accessory protein 1) (eg, spastic paraplegia), full gene sequence
RET (ret proto-oncogene) (eg, multiple endocrine neoplasia, type 2A and familial medullary thyroid carcinoma), targeted sequence analysis (eg, exons 10, 11, 13-16)
RPS19 (ribosomal protein S19) (eg, Diamond-Blackfan anemia), full gene sequence
RRM2B (ribonucleotide reductase M2 B [TP53 inducible]) (eg, mitochondrial DNA depletion), full gene sequence
SCO1 (SCO cytochrome oxidase deficient homolog 1) (eg, mitochondrial respiratory chain complex IV deficiency), full gene sequence
SDHB (succinate dehydrogenase complex, subunit B, iron sulfur) (eg, hereditary paraganglioma), full gene sequence
SDHC (succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa) (eg, hereditary paraganglioma-pheochromocytoma syndrome), full gene sequence
SGCA (sarcoglycan, alpha [50kDa dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), full gene sequence
SGCB (sarcoglycan, beta [43kDa dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), full gene sequence
SGCD (sarcoglycan, delta [35kDa dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), full gene sequence
SGCE (sarcoglycan, epsilon) (eg, myoclonic dystonia), duplication/deletion analysis
SGCG (sarcoglycan, gamma [35kDa dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), full gene sequence
SHOC2 (soc-2 suppressor of clear homolog) (eg, Noonan-like syndrome with loose anagen hair), full gene sequence
SHOX (short stature homeobox) (eg, Langer mesomelic dysplasia), full gene sequence
SIL1 (SIL1 homolog, endoplasmic reticulum chaperone [S. cerevisiae]) (eg, ataxia), full gene sequence
SLC2A1 (solute carrier family 2 [facilitated glucose transporter], member 1) (eg, glucose transporter type 1 [GLUT 1] deficiency syndrome), full gene sequence
SLC16A2 (solute carrier family 16, member 2 [thyroid hormone transporter]) (eg, specific thyroid hormone cell transporter deficiency, Allan-Herndon-Dudley syndrome), full gene sequence
SLC22A5 (solute carrier family 22 [organic cation/carnitine transporter], member 5) (eg, systemic primary carnitine deficiency), full gene sequence
SLC25A20 (solute carrier family 25 [carnitine/acylcarnitine translocase], member 20) (eg, carnitine-acylcarnitine translocase deficiency), full gene sequence
SMAD4 (SMAD family member 4) (eg, hemorrhagic telangiectasia syndrome, juvenile polyposis), duplication/deletion analysis
SPAST (spastin) (eg, spastic paraplegia), duplication/deletion analysis
SPG7 (spastic paraplegia 7 [pure and complicated autosomal recessive]) (eg, spastic paraplegia), duplication/deletion analysis
SPRED1 (sprouty-related, EVH1 domain containing 1) (eg, Legius syndrome), full gene sequence
STAT3 (signal transducer and activator of transcription 3 [acute-phase response factor]) (eg, autosomal dominant hyper-IgE syndrome), targeted sequence analysis (eg, exons 12, 13, 14, 16, 17, 20, 21)
STK11 (serine/threonine kinase 11) (eg, Peutz-Jeghers syndrome), full gene sequence
SURF1 (surfeit 1) (eg, mitochondrial respiratory chain complex IV deficiency), full gene sequence
TARDBP (TAR DNA binding protein) (eg, amyotrophic lateral sclerosis), full gene sequence
TBX5 (T-box 5) (eg, Holt-Oram syndrome), full gene sequence
TCF4 (transcription factor 4) (eg, Pitt-Hopkins syndrome), duplication/deletion analysis
TGFBR1 (transforming growth factor, beta receptor 1) (eg, Marfan syndrome), full gene sequence
TGFBR2 (transforming growth factor, beta receptor 2) (eg, Marfan syndrome), full gene sequence
THRB (thyroid hormone receptor, beta) (eg, thyroid hormone resistance, thyroid hormone beta receptor deficiency), full gene sequence or targeted sequence analysis of >5 exons
TK2 (thymidine kinase 2, mitochondrial) (eg, mitochondrial DNA depletion syndrome), full gene sequence
TNNC1 (troponin C type 1 [slow]) (eg, hypertrophic cardiomyopathy or dilated cardiomyopathy), full gene sequence
TNNI3 (troponin I, type 3 [cardiac]) (eg, familial hypertrophic cardiomyopathy), full gene sequence
TPM1 (tropomyosin 1 [alpha]) (eg, familial hypertrophic cardiomyopathy), full gene sequence
TSC1 (tuberous sclerosis 1) (eg, tuberous sclerosis), duplication/deletion analysis
TYMP (thymidine phosphorylase) (eg, mitochondrial DNA depletion syndrome), full gene sequence
VWF (von Willebrand factor) (eg, von Willebrand disease type 2N), targeted sequence analysis (eg, exons 18-20, 23-25)
WT1 (Wilms tumor 1) (eg, Denys-Drash syndrome, familial Wilms tumor), full gene sequence
ZEB2 (zinc finger E-box binding homeobox 2) (eg, Mowat-Wilson syndrome), full gene sequence