CPT® Code 81406

Molecular pathology procedure, Level 7 (eg, analysis of 11-25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons)

ACADVL (acyl-CoA dehydrogenase, very long chain) (eg, very long chain acyl-coenzyme A dehydrogenase deficiency), full gene sequence

ACTN4 (actinin, alpha 4) (eg, focal segmental glomerulosclerosis), full gene sequence

AFG3L2 (AFG3 ATPase family gene 3-like 2 [S. cerevisiae]) (eg, spinocerebellar ataxia), full gene sequence

AIRE (autoimmune regulator) (eg, autoimmune polyendocrinopathy syndrome type 1), full gene sequence

ALDH7A1 (aldehyde dehydrogenase 7 family, member A1) (eg, pyridoxine-dependent epilepsy), full gene sequence

ANO5 (anoctamin 5) (eg, limb-girdle muscular dystrophy), full gene sequence

ANOS1 (anosmin-1) (eg, Kallmann syndrome 1), full gene sequence

APP (amyloid beta [A4] precursor protein) (eg, Alzheimer disease), full gene sequence

ASS1 (argininosuccinate synthase 1) (eg, citrullinemia type I), full gene sequence

ATL1 (atlastin GTPase 1) (eg, spastic paraplegia), full gene sequence

ATP1A2 (ATPase, Na+/K+ transporting, alpha 2 polypeptide) (eg, familial hemiplegic migraine), full gene sequence

ATP7B (ATPase, Cu++ transporting, beta polypeptide) (eg, Wilson disease), full gene sequence

BBS1 (Bardet-Biedl syndrome 1) (eg, Bardet-Biedl syndrome), full gene sequence

BBS2 (Bardet-Biedl syndrome 2) (eg, Bardet-Biedl syndrome), full gene sequence

BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, maple syrup urine disease, type 1B), full gene sequence

BEST1 (bestrophin 1) (eg, vitelliform macular dystrophy), full gene sequence

BMPR2 (bone morphogenetic protein receptor, type II [serine/threonine kinase]) (eg, heritable pulmonary arterial hypertension), full gene sequence

BRAF (B-Raf proto-oncogene, serine/threonine kinase) (eg, Noonan syndrome), full gene sequence

BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 [seipin]) (eg, Berardinelli-Seip congenital lipodystrophy), full gene sequence

BTK (Bruton agammaglobulinemia tyrosine kinase) (eg, X-linked agammaglobulinemia), full gene sequence

CACNB2 (calcium channel, voltage-dependent, beta 2 subunit) (eg, Brugada syndrome), full gene sequence

CAPN3 (calpain 3) (eg, limb-girdle muscular dystrophy [LGMD] type 2A, calpainopathy), full gene sequence CBS (cystathionine-beta-synthase) (eg, homocystinuria, cystathionine beta-synthase deficiency), full gene sequence

CDH1 (cadherin 1, type 1, E-cadherin [epithelial]) (eg, hereditary diffuse gastric cancer), full gene sequence

CDKL5 (cyclin-dependent kinase-like 5) (eg, early infantile epileptic encephalopathy), full gene sequence

CLCN1 (chloride channel 1, skeletal muscle) (eg, myotonia congenita), full gene sequence

CLCNKB (chloride channel, voltage-sensitive Kb) (eg, Bartter syndrome 3 and 4b), full gene sequence

CNTNAP2 (contactin-associated protein-like 2) (eg, Pitt-Hopkins-like syndrome 1), full gene sequence

COL6A2 (collagen, type VI, alpha 2) (eg, collagen type VI-related disorders), duplication/deletion analysis

CPT1A (carnitine palmitoyltransferase 1A [liver]) (eg, carnitine palmitoyltransferase 1A [CPT1A] deficiency), full gene sequence

CRB1 (crumbs homolog 1 [Drosophila]) (eg, Leber congenital amaurosis), full gene sequence

CREBBP (CREB binding protein) (eg, Rubinstein-Taybi syndrome), duplication/deletion analysis

DBT (dihydrolipoamide branched chain transacylase E2) (eg, maple syrup urine disease, type 2), full gene sequence

DLAT (dihydrolipoamide S-acetyltransferase) (eg, pyruvate dehydrogenase E2 deficiency), full gene sequence

DLD (dihydrolipoamide dehydrogenase) (eg, maple syrup urine disease, type III), full gene sequence

DSC2 (desmocollin) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 11), full gene sequence

DSG2 (desmoglein 2) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 10), full gene sequence

DSP (desmoplakin) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 8), full gene sequence

EFHC1 (EF-hand domain [C-terminal] containing 1) (eg, juvenile myoclonic epilepsy), full gene sequence

EIF2B3 (eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa) (eg, leukoencephalopathy with vanishing white matter), full gene sequence

EIF2B4 (eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa) (eg, leukoencephalopathy with vanishing white matter), full gene sequence

EIF2B5 (eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa) (eg, childhood ataxia with central nervous system hypomyelination/vanishing white matter), full gene sequence

ENG (endoglin) (eg, hereditary hemorrhagic telangiectasia, type 1), full gene sequence

EYA1 (eyes absent homolog 1 [Drosophila]) (eg, branchio-oto-renal [BOR] spectrum disorders), full gene sequence

F8 (coagulation factor VIII) (eg, hemophilia A), duplication/deletion analysis

FAH (fumarylacetoacetate hydrolase [fumarylacetoacetase]) (eg, tyrosinemia, type 1), full gene sequence

FASTKD2 (FAST kinase domains 2) (eg, mitochondrial respiratory chain complex IV deficiency), full gene sequence

FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing [S. cerevisiae]) (eg, Charcot-Marie-Tooth disease), full gene sequence

FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1) (eg, X-linked intellectual disability 9), full gene sequence

FUS (fused in sarcoma) (eg, amyotrophic lateral sclerosis), full gene sequence

GAA (glucosidase, alpha; acid) (eg, glycogen storage disease type II [Pompe disease]), full gene sequence

GALC (galactosylceramidase) (eg, Krabbe disease), full gene sequence

GALT (galactose-1-phosphate uridylyltransferase) (eg, galactosemia), full gene sequence

GARS (glycyl-tRNA synthetase) (eg, Charcot-Marie-Tooth disease), full gene sequence

GCDH (glutaryl-CoA dehydrogenase) (eg, glutaricacidemia type 1), full gene sequence

GCK (glucokinase [hexokinase 4]) (eg, maturity-onset diabetes of the young [MODY]), full gene sequence

GLUD1 (glutamate dehydrogenase 1) (eg, familial hyperinsulinism), full gene sequence

GNE (glucosamine [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine kinase) (eg, inclusion body myopathy 2 [IBM2], Nonaka myopathy), full gene sequence

GRN (granulin) (eg, frontotemporal dementia), full gene sequence

HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase [trifunctional protein] alpha subunit) (eg, long chain acyl-coenzyme A dehydrogenase deficiency), full gene sequence

HADHB (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase [trifunctional protein], beta subunit) (eg, trifunctional protein deficiency), full gene sequence

HEXA (hexosaminidase A, alpha polypeptide) (eg, Tay-Sachs disease), full gene sequence

HLCS (HLCS holocarboxylase synthetase) (eg, holocarboxylase synthetase deficiency), full gene sequence

HMBS (hydroxymethylbilane synthase) (eg, acute intermittent porphyria), full gene sequence

HNF4A (hepatocyte nuclear factor 4, alpha) (eg, maturity-onset diabetes of the young [MODY]), full gene sequence

IDUA (iduronidase, alpha-L-) (eg, mucopolysaccharidosis type I), full gene sequence

INF2 (inverted formin, FH2 and WH2 domain containing) (eg, focal segmental glomerulosclerosis), full gene sequence

IVD (isovaleryl-CoA dehydrogenase) (eg, isovaleric acidemia), full gene sequence

JAG1 (jagged 1) (eg, Alagille syndrome), duplication/deletion analysis

JUP (junction plakoglobin) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 11), full gene sequence

KCNH2 (potassium voltage-gated channel, subfamily H [eag-related], member 2) (eg, short QT syndrome, long QT syndrome), full gene sequence

KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) (eg, short QT syndrome, long QT syndrome), full gene sequence

KCNQ2 (potassium voltage-gated channel, KQT-like subfamily, member 2) (eg, epileptic encephalopathy), full gene sequence

LDB3 (LIM domain binding 3) (eg, familial dilated cardiomyopathy, myofibrillar myopathy), full gene sequence

LDLR (low density lipoprotein receptor) (eg, familial hypercholesterolemia), full gene sequence

LEPR (leptin receptor) (eg, obesity with hypogonadism), full gene sequence

LHCGR (luteinizing hormone/choriogonadotropin receptor) (eg, precocious male puberty), full gene sequence

LMNA (lamin A/C) (eg, Emery-Dreifuss muscular dystrophy [EDMD1, 2 and 3] limb-girdle muscular dystrophy [LGMD] type 1B, dilated cardiomyopathy [CMD1A], familial partial lipodystrophy [FPLD2]), full gene sequence

LRP5 (low density lipoprotein receptor-related protein 5) (eg, osteopetrosis), full gene sequence

MAP2K1 (mitogen-activated protein kinase 1) (eg, cardiofaciocutaneous syndrome), full gene sequence

MAP2K2 (mitogen-activated protein kinase 2) (eg, cardiofaciocutaneous syndrome), full gene sequence

MAPT (microtubule-associated protein tau) (eg, frontotemporal dementia), full gene sequence

MCCC1 (methylcrotonoyl-CoA carboxylase 1 [alpha]) (eg, 3-methylcrotonyl-CoA carboxylase deficiency), full gene sequence

MCCC2 (methylcrotonoyl-CoA carboxylase 2 [beta]) (eg, 3-methylcrotonyl carboxylase deficiency), full gene sequence

MFN2 (mitofusin 2) (eg, Charcot-Marie-Tooth disease), full gene sequence

MTM1 (myotubularin 1) (eg, X-linked centronuclear myopathy), full gene sequence

MUT (methylmalonyl CoA mutase) (eg, methylmalonic acidemia), full gene sequence

MUTYH (mutY homolog [E. coli]) (eg, MYH-associated polyposis), full gene sequence

NDUFS1 (NADH dehydrogenase [ubiquinone] Fe-S protein 1, 75kDa [NADH-coenzyme Q reductase]) (eg, Leigh syndrome, mitochondrial complex I deficiency), full gene sequence

NF2 (neurofibromin 2 [merlin]) (eg, neurofibromatosis, type 2), full gene sequence

NOTCH3 (notch 3) (eg, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [CADASIL]), targeted sequence analysis (eg, exons 1-23)

NPC1 (Niemann-Pick disease, type C1) (eg, Niemann-Pick disease), full gene sequence NPHP1 (nephronophthisis 1 [juvenile]) (eg, Joubert syndrome), full gene sequence

NSD1 (nuclear receptor binding SET domain protein 1) (eg, Sotos syndrome), full gene sequence

OPA1 (optic atrophy 1) (eg, optic atrophy), duplication/deletion analysis

OPTN (optineurin) (eg, amyotrophic lateral sclerosis), full gene sequence

PAFAH1B1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 [45kDa]) (eg, lissencephaly, Miller-Dieker syndrome), full gene sequence

PAH (phenylalanine hydroxylase) (eg, phenylketonuria), full gene sequence

PARK2 (Parkinson protein 2, E3 ubiquitin protein ligase [parkin]) (eg, Parkinson disease), full gene sequence

PAX2 (paired box 2) (eg, renal coloboma syndrome), full gene sequence

PC (pyruvate carboxylase) (eg, pyruvate carboxylase deficiency), full gene sequence

PCCA (propionyl CoA carboxylase, alpha polypeptide) (eg, propionic acidemia, type 1), full gene sequence

PCCB (propionyl CoA carboxylase, beta polypeptide) (eg, propionic acidemia), full gene sequence

PCDH15 (protocadherin-related 15) (eg, Usher syndrome type 1F), duplication/deletion analysis

PCSK9 (proprotein convertase subtilisin/kexin type 9) (eg, familial hypercholesterolemia), full gene sequence

PDHA1 (pyruvate dehydrogenase [lipoamide] alpha 1) (eg, lactic acidosis), full gene sequence

PDHX (pyruvate dehydrogenase complex, component X) (eg, lactic acidosis), full gene sequence

PHEX (phosphate-regulating endopeptidase homolog, X-linked) (eg, hypophosphatemic rickets), full gene sequence

PKD2 (polycystic kidney disease 2 [autosomal dominant]) (eg, polycystic kidney disease), full gene sequence

PKP2 (plakophilin 2) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 9), full gene sequence

PNKD (paroxysmal nonkinesigenic dyskinesia) (eg, paroxysmal nonkinesigenic dyskinesia), full gene sequence

POLG (polymerase [DNA directed], gamma) (eg, Alpers-Huttenlocher syndrome, autosomal dominant progressive external ophthalmoplegia), full gene sequence

POMGNT1 (protein O-linked mannose beta1,2-N acetylglucosaminyltransferase) (eg, muscle-eye-brain disease, Walker-Warburg syndrome), full gene sequence

POMT1 (protein-O-mannosyltransferase 1) (eg, limb-girdle muscular dystrophy [LGMD] type 2K, Walker-Warburg syndrome), full gene sequence

POMT2 (protein-O-mannosyltransferase 2) (eg, limb-girdle muscular dystrophy [LGMD] type 2N, Walker-Warburg syndrome), full gene sequence

PPOX (protoporphyrinogen oxidase) (eg, variegate porphyria), full gene sequence

PRKAG2 (protein kinase, AMP-activated, gamma 2 non-catalytic subunit) (eg, familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome, lethal congenital glycogen storage disease of heart), full gene sequence

PRKCG (protein kinase C, gamma) (eg, spinocerebellar ataxia), full gene sequence

PSEN2 (presenilin 2 [Alzheimer disease 4]) (eg, Alzheimer disease), full gene sequence

PTPN11 (protein tyrosine phosphatase, non-receptor type 11) (eg, Noonan syndrome, LEOPARD syndrome), full gene sequence

PYGM (phosphorylase, glycogen, muscle) (eg, glycogen storage disease type V, McArdle disease), full gene sequence

RAF1 (v-raf-1 murine leukemia viral oncogene homolog 1) (eg, LEOPARD syndrome), full gene sequence

RET (ret proto-oncogene) (eg, Hirschsprung disease), full gene sequence

RPE65 (retinal pigment epithelium-specific protein 65kDa) (eg, retinitis pigmentosa, Leber congenital amaurosis), full gene sequence

RYR1 (ryanodine receptor 1, skeletal) (eg, malignant hyperthermia), targeted sequence analysis of exons with functionally-confirmed mutations

SCN4A (sodium channel, voltage-gated, type IV, alpha subunit) (eg, hyperkalemic periodic paralysis), full gene sequence

SCNN1A (sodium channel, nonvoltage-gated 1 alpha) (eg, pseudohypoaldosteronism), full gene sequence

SCNN1B (sodium channel, nonvoltage-gated 1, beta) (eg, Liddle syndrome, pseudohypoaldosteronism), full gene sequence

SCNN1G (sodium channel, nonvoltage-gated 1, gamma) (eg, Liddle syndrome, pseudohypoaldosteronism), full gene sequence

SDHA (succinate dehydrogenase complex, subunit A, flavoprotein [Fp]) (eg, Leigh syndrome, mitochondrial complex II deficiency), full gene sequence

SETX (senataxin) (eg, ataxia), full gene sequence

SGCE (sarcoglycan, epsilon) (eg, myoclonic dystonia), full gene sequence

SH3TC2 (SH3 domain and tetratricopeptide repeats 2) (eg, Charcot-Marie-Tooth disease), full gene sequence

SLC9A6 (solute carrier family 9 [sodium/hydrogen exchanger], member 6) (eg, Christianson syndrome), full gene sequence

SLC26A4 (solute carrier family 26, member 4) (eg, Pendred syndrome), full gene sequence

SLC37A4 (solute carrier family 37 [glucose-6-phosphate transporter], member 4) (eg, glycogen storage disease type Ib), full gene sequence

SMAD4 (SMAD family member 4) (eg, hemorrhagic telangiectasia syndrome, juvenile polyposis), full gene sequence

SOS1 (son of sevenless homolog 1) (eg, Noonan syndrome, gingival fibromatosis), full gene sequence

SPAST (spastin) (eg, spastic paraplegia), full gene sequence

SPG7 (spastic paraplegia 7 [pure and complicated autosomal recessive]) (eg, spastic paraplegia), full gene sequence

STXBP1 (syntaxin-binding protein 1) (eg, epileptic encephalopathy), full gene sequence

TAZ (tafazzin) (eg, methylglutaconic aciduria type 2, Barth syndrome), full gene sequence

TCF4 (transcription factor 4) (eg, Pitt-Hopkins syndrome), full gene sequence

TH (tyrosine hydroxylase) (eg, Segawa syndrome), full gene sequence

TMEM43 (transmembrane protein 43) (eg, arrhythmogenic right ventricular cardiomyopathy), full gene sequence

TNNT2 (troponin T, type 2 [cardiac]) (eg, familial hypertrophic cardiomyopathy), full gene sequence

TRPC6 (transient receptor potential cation channel, subfamily C, member 6) (eg, focal segmental glomerulosclerosis), full gene sequence

TSC1 (tuberous sclerosis 1) (eg, tuberous sclerosis), full gene sequence

TSC2 (tuberous sclerosis 2) (eg, tuberous sclerosis), duplication/deletion analysis

UBE3A (ubiquitin protein ligase E3A) (eg, Angelman syndrome), full gene sequence

UMOD (uromodulin) (eg, glomerulocystic kidney disease with hyperuricemia and isosthenuria), full gene sequence

VWF (von Willebrand factor) (von Willebrand disease type 2A), extended targeted sequence analysis (eg, exons 11-16, 24-26, 51, 52)

WAS (Wiskott-Aldrich syndrome [eczema-thrombocytopenia]) (eg, Wiskott-Aldrich syndrome), full gene sequence

Molecular pathology procedures are specialized tests conducted at the molecular level to diagnose, treat, and provide prognostic indicators for various genetic disorders, cancers, infectious diseases, and to assess tissue histocompatibility in transplant procedures. These procedures are categorized into different levels based on their complexity, which reflects the amount of professional work and laboratory costs involved in performing them. Specifically, Level 7 molecular pathology tests, as denoted by CPT® Code 81406, involve the analysis of 11 to 25 exons through methods such as DNA sequence analysis, mutation scanning, or duplication/deletion variants of 26 to 50 exons. Additionally, cytogenomic array analysis for neoplasia falls under this level of complexity. The process begins with a thorough review of the patient's medical history, clinical findings, and results from other diagnostic tests and procedures by a molecular pathologist. Following this assessment, the Level 7 test is performed, which may include a variety of specific tests identified under this code. It is important to note that molecular pathology procedures not explicitly listed but requiring similar levels of expertise, work, and laboratory costs, and utilizing comparable techniques, should also be reported using CPT® Code 81406. After the test is completed, the molecular pathologist interprets the results and compiles a detailed written report outlining the findings, which is essential for guiding further clinical decisions.