CPT® Code 81404

Molecular pathology procedure, Level 5 (eg, analysis of 2-5 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis)

ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain) (eg, short chain acyl-CoA dehydrogenase deficiency), targeted sequence analysis (eg, exons 5 and 6)

AQP2 (aquaporin 2 [collecting duct]) (eg, nephrogenic diabetes insipidus), full gene sequence

ARX (aristaless related homeobox) (eg, X-linked lissencephaly with ambiguous genitalia, X-linked intellectual disability), full gene sequence

AVPR2 (arginine vasopressin receptor 2) (eg, nephrogenic diabetes insipidus), full gene sequence

BBS10 (Bardet-Biedl syndrome 10) (eg, Bardet-Biedl syndrome), full gene sequence

BTD (biotinidase) (eg, biotinidase deficiency), full gene sequence

C10orf2 (chromosome 10 open reading frame 2) (eg, mitochondrial DNA depletion syndrome), full gene sequence

CAV3 (caveolin 3) (eg, CAV3-related distal myopathy, limb-girdle muscular dystrophy type 1C), full gene sequence

CD40LG (CD40 ligand) (eg, X-linked hyper IgM syndrome), full gene sequence

CDKN2A (cyclin-dependent kinase inhibitor 2A) (eg, CDKN2A-related cutaneous malignant melanoma, familial atypical mole-malignant melanoma syndrome), full gene sequence

CLRN1 (clarin 1) (eg, Usher syndrome, type 3), full gene sequence

COX6B1 (cytochrome c oxidase subunit VIb polypeptide 1) (eg, mitochondrial respiratory chain complex IV deficiency), full gene sequence

CPT2 (carnitine palmitoyltransferase 2) (eg, carnitine palmitoyltransferase II deficiency), full gene sequence

CRX (cone-rod homeobox) (eg, cone-rod dystrophy 2, Leber congenital amaurosis), full gene sequence

CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) (eg, primary congenital glaucoma), full gene sequence

EGR2 (early growth response 2) (eg, Charcot-Marie-Tooth), full gene sequence

EMD (emerin) (eg, Emery-Dreifuss muscular dystrophy), duplication/deletion analysis

EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease [laforin]) (eg, progressive myoclonus epilepsy), full gene sequence

FGF23 (fibroblast growth factor 23) (eg, hypophosphatemic rickets), full gene sequence

FGFR2 (fibroblast growth factor receptor 2) (eg, craniosynostosis, Apert syndrome, Crouzon syndrome), targeted sequence analysis (eg, exons 8, 10)

FGFR3 (fibroblast growth factor receptor 3) (eg, achondroplasia, hypochondroplasia), targeted sequence analysis (eg, exons 8, 11, 12, 13)

FHL1 (four and a half LIM domains 1) (eg, Emery-Dreifuss muscular dystrophy), full gene sequence

FKRP (fukutin related protein) (eg, congenital muscular dystrophy type 1C [MDC1C], limb-girdle muscular dystrophy [LGMD] type 2I), full gene sequence

FOXG1 (forkhead box G1) (eg, Rett syndrome), full gene sequence

FSHMD1A (facioscapulohumeral muscular dystrophy 1A) (eg, facioscapulohumeral muscular dystrophy), evaluation to detect abnormal (eg, deleted) alleles

FSHMD1A (facioscapulohumeral muscular dystrophy 1A) (eg, facioscapulohumeral muscular dystrophy), characterization of haplotype(s) (ie, chromosome 4A and 4B haplotypes)

GH1 (growth hormone 1) (eg, growth hormone deficiency), full gene sequence

GP1BB (glycoprotein Ib [platelet], beta polypeptide) (eg, Bernard-Soulier syndrome type B), full gene sequence

(For common deletion variants of alpha globin 1 and alpha globin 2 genes, use 81257)

HNF1B (HNF1 homeobox B) (eg, maturity-onset diabetes of the young [MODY]), duplication/deletion analysis

HRAS (v-Ha-ras Harvey rat sarcoma viral oncogene homolog) (eg, Costello syndrome), full gene sequence

HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) (eg, 3-beta-hydroxysteroid dehydrogenase type II deficiency), full gene sequence

HSD11B2 (hydroxysteroid [11-beta] dehydrogenase 2) (eg, mineralocorticoid excess syndrome), full gene sequence

HSPB1 (heat shock 27kDa protein 1) (eg, Charcot-Marie-Tooth disease), full gene sequence

INS (insulin) (eg, diabetes mellitus), full gene sequence

KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1) (eg, Bartter syndrome), full gene sequence

KCNJ10 (potassium inwardly-rectifying channel, subfamily J, member 10) (eg, SeSAME syndrome, EAST syndrome, sensorineural hearing loss), full gene sequence

LITAF (lipopolysaccharide-induced TNF factor) (eg, Charcot-Marie-Tooth), full gene sequence

MEFV (Mediterranean fever) (eg, familial Mediterranean fever), full gene sequence

MEN1 (multiple endocrine neoplasia I) (eg, multiple endocrine neoplasia type 1, Wermer syndrome), duplication/deletion analysis

MMACHC (methylmalonic aciduria [cobalamin deficiency] cblC type, with homocystinuria) (eg, methylmalonic acidemia and homocystinuria), full gene sequence

MPV17 (MpV17 mitochondrial inner membrane protein) (eg, mitochondrial DNA depletion syndrome), duplication/deletion analysis

NDP (Norrie disease [pseudoglioma]) (eg, Norrie disease), full gene sequence

NDUFA1 (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex, 1, 7.5kDa) (eg, Leigh syndrome, mitochondrial complex I deficiency), full gene sequence

NDUFAF2 (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex, assembly factor 2) (eg, Leigh syndrome, mitochondrial complex I deficiency), full gene sequence

NDUFS4 (NADH dehydrogenase [ubiquinone] Fe-S protein 4, 18kDa [NADH-coenzyme Q reductase]) (eg, Leigh syndrome, mitochondrial complex I deficiency), full gene sequence

NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome 1) (eg, spastic paraplegia), full gene sequence

NLGN4X (neuroligin 4, X-linked) (eg, autism spectrum disorders), duplication/deletion analysis

NPC2 (Niemann-Pick disease, type C2 [epididymal secretory protein E1]) (eg, Niemann-Pick disease type C2), full gene sequence

NR0B1 (nuclear receptor subfamily 0, group B, member 1) (eg, congenital adrenal hypoplasia), full gene sequence

PDX1 (pancreatic and duodenal homeobox 1) (eg, maturity-onset diabetes of the young [MODY]), full gene sequence

PHOX2B (paired-like homeobox 2b) (eg, congenital central hypoventilation syndrome), full gene sequence

PLP1 (proteolipid protein 1) (eg, Pelizaeus-Merzbacher disease, spastic paraplegia), duplication/deletion analysis

PQBP1 (polyglutamine binding protein 1) (eg, Renpenning syndrome), duplication/deletion analysis

PRNP (prion protein) (eg, genetic prion disease), full gene sequence

PROP1 (PROP paired-like homeobox 1) (eg, combined pituitary hormone deficiency), full gene sequence

PRPH2 (peripherin 2 [retinal degeneration, slow]) (eg, retinitis pigmentosa), full gene sequence

PRSS1 (protease, serine, 1 [trypsin 1]) (eg, hereditary pancreatitis), full gene sequence

RAF1 (v-raf-1 murine leukemia viral oncogene homolog 1) (eg, LEOPARD syndrome), targeted sequence analysis (eg, exons 7, 12, 14, 17)

RET (ret proto-oncogene) (eg, multiple endocrine neoplasia, type 2B and familial medullary thyroid carcinoma), common variants (eg, M918T, 2647_2648delinsTT, A883F)

RHO (rhodopsin) (eg, retinitis pigmentosa), full gene sequence

RP1 (retinitis pigmentosa 1) (eg, retinitis pigmentosa), full gene sequence

SCN1B (sodium channel, voltage-gated, type I, beta) (eg, Brugada syndrome), full gene sequence

SCO2 (SCO cytochrome oxidase deficient homolog 2 [SCO1L]) (eg, mitochondrial respiratory chain complex IV deficiency), full gene sequence

SDHC (succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa) (eg, hereditary paraganglioma-pheochromocytoma syndrome), duplication/deletion analysis

SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein) (eg, hereditary paraganglioma), full gene sequence

SGCG (sarcoglycan, gamma [35kDa dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), duplication/deletion analysis

SH2D1A (SH2 domain containing 1A) (eg, X-linked lymphoproliferative 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), duplication/deletion analysis

SLC25A20 (solute carrier family 25 [carnitine/acylcarnitine translocase], member 20) (eg, carnitine-acylcarnitine translocase deficiency), duplication/deletion analysis

SLC25A4 (solute carrier family 25 [mitochondrial carrier; adenine nucleotide translocator], member 4) (eg, progressive external ophthalmoplegia), full gene sequence

SOD1 (superoxide dismutase 1, soluble) (eg, amyotrophic lateral sclerosis), full gene sequence

SPINK1 (serine peptidase inhibitor, Kazal type 1) (eg, hereditary pancreatitis), full gene sequence

STK11 (serine/threonine kinase 11) (eg, Peutz-Jeghers syndrome), duplication/deletion analysis

TACO1 (translational activator of mitochondrial encoded cytochrome c oxidase I) (eg, mitochondrial respiratory chain complex IV deficiency), full gene sequence

THAP1 (THAP domain containing, apoptosis associated protein 1) (eg, torsion dystonia), full gene sequence

TOR1A (torsin family 1, member A [torsin A]) (eg, torsion dystonia), full gene sequence

TTPA (tocopherol [alpha] transfer protein) (eg, ataxia), full gene sequence

TTR (transthyretin) (eg, familial transthyretin amyloidosis), full gene sequence

TWIST1 (twist homolog 1 [Drosophila]) (eg, Saethre-Chotzen syndrome), full gene sequence

TYR (tyrosinase [oculocutaneous albinism IA]) (eg, oculocutaneous albinism IA), full gene sequence

UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, hereditary unconjugated hyperbilirubinemia [Crigler-Najjar syndrome]) full gene sequence

USH1G (Usher syndrome 1G [autosomal recessive]) (eg, Usher syndrome, type 1), full gene sequence

VHL (von Hippel-Lindau tumor suppressor) (eg, von Hippel-Lindau familial cancer syndrome), full gene sequence

VWF (von Willebrand factor) (eg, von Willebrand disease type 1C), targeted sequence analysis (eg, exons 26, 27, 37)

ZEB2 (zinc finger E-box binding homeobox 2) (eg, Mowat-Wilson syndrome), duplication/deletion analysis

ZNF41 (zinc finger protein 41) (eg, X-linked intellectual disability 89), full gene sequence

Molecular pathology procedures represent a critical aspect of modern medical diagnostics, focusing on the analysis of genetic material to identify various disorders. These tests are performed at the molecular level and are essential for diagnosing, treating, and providing prognostic indicators for a range of conditions, including genetic disorders, cancers, and infectious diseases. In the context of transplant procedures, molecular pathology also plays a vital role in identifying tissue histocompatibility. The complexity of these procedures is categorized into different levels, with Level 5 indicating a higher degree of professional work and laboratory costs associated with the testing. Specifically, Level 5 tests involve the analysis of 2 to 5 exons through DNA sequence analysis, mutation scanning, or the examination of duplication/deletion variants across 6 to 10 exons. Additionally, this level encompasses the characterization of dynamic mutation disorders or triplet repeats using Southern blot analysis. The process begins with a thorough review of the patient's medical history, clinical findings, and results from other diagnostic tests. Following this comprehensive evaluation, the Level 5 molecular pathology test is conducted. This code, CPT® 81404, encompasses a variety of specific tests that fall under this classification. It is important to note that any molecular pathology procedures not explicitly identified but requiring a similar level of expertise, work, and laboratory costs, and utilizing comparable techniques, should also be reported using this code. After the test is performed, the molecular pathologist interprets the results and compiles a detailed written report outlining the findings, which is crucial for guiding further clinical decisions.