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Official Description

Molecular pathology procedure, Level 8 (eg, analysis of 26-50 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of >50 exons, sequence analysis of multiple genes on one platform)

ABCC8 (ATP-binding cassette, sub-family C [CFTR/MRP], member 8) (eg, familial hyperinsulinism), full gene sequence

AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase) (eg, glycogen storage disease type III), full gene sequence

AHI1 (Abelson helper integration site 1) (eg, Joubert syndrome), full gene sequence

APOB (apolipoprotein B) (eg, familial hypercholesterolemia type B) full gene sequence

ASPM (asp [abnormal spindle] homolog, microcephaly associated [Drosophila]) (eg, primary microcephaly), full gene sequence

CHD7 (chromodomain helicase DNA binding protein 7) (eg, CHARGE syndrome), full gene sequence

COL4A4 (collagen, type IV, alpha 4) (eg, Alport syndrome), full gene sequence

COL4A5 (collagen, type IV, alpha 5) (eg, Alport syndrome), duplication/deletion analysis

COL6A1 (collagen, type VI, alpha 1) (eg, collagen type VI-related disorders), full gene sequence

COL6A2 (collagen, type VI, alpha 2) (eg, collagen type VI-related disorders), full gene sequence

COL6A3 (collagen, type VI, alpha 3) (eg, collagen type VI-related disorders), full gene sequence

CREBBP (CREB binding protein) (eg, Rubinstein-Taybi syndrome), full gene sequence

F8 (coagulation factor VIII) (eg, hemophilia A), full gene sequence

JAG1 (jagged 1) (eg, Alagille syndrome), full gene sequence

KDM5C (lysine demethylase 5C) (eg, X-linked intellectual disability), full gene sequence

KIAA0196 (KIAA0196) (eg, spastic paraplegia), full gene sequence

L1CAM (L1 cell adhesion molecule) (eg, MASA syndrome, X-linked hydrocephaly), full gene sequence

LAMB2 (laminin, beta 2 [laminin S]) (eg, Pierson syndrome), full gene sequence

MYBPC3 (myosin binding protein C, cardiac) (eg, familial hypertrophic cardiomyopathy), full gene sequence

MYH6 (myosin, heavy chain 6, cardiac muscle, alpha) (eg, familial dilated cardiomyopathy), full gene sequence

MYH7 (myosin, heavy chain 7, cardiac muscle, beta) (eg, familial hypertrophic cardiomyopathy, Liang distal myopathy), full gene sequence

MYO7A (myosin VIIA) (eg, Usher syndrome, type 1), full gene sequence

NOTCH1 (notch 1) (eg, aortic valve disease), full gene sequence

NPHS1 (nephrosis 1, congenital, Finnish type [nephrin]) (eg, congenital Finnish nephrosis), full gene sequence OPA1 (optic atrophy 1) (eg, optic atrophy), full gene sequence

PCDH15 (protocadherin-related 15) (eg, Usher syndrome, type 1), full gene sequence

PKD1 (polycystic kidney disease 1 [autosomal dominant]) (eg, polycystic kidney disease), full gene sequence

PLCE1 (phospholipase C, epsilon 1) (eg, nephrotic syndrome type 3), full gene sequence

SCN1A (sodium channel, voltage-gated, type 1, alpha subunit) (eg, generalized epilepsy with febrile seizures), full gene sequence

SCN5A (sodium channel, voltage-gated, type V, alpha subunit) (eg, familial dilated cardiomyopathy), full gene sequence

SLC12A1 (solute carrier family 12 [sodium/potassium/chloride transporters], member 1) (eg, Bartter syndrome), full gene sequence

SLC12A3 (solute carrier family 12 [sodium/chloride transporters], member 3) (eg, Gitelman syndrome), full gene sequence

SPG11 (spastic paraplegia 11 [autosomal recessive]) (eg, spastic paraplegia), full gene sequence

SPTBN2 (spectrin, beta, non-erythrocytic 2) (eg, spinocerebellar ataxia), full gene sequence

TMEM67 (transmembrane protein 67) (eg, Joubert syndrome), full gene sequence

TSC2 (tuberous sclerosis 2) (eg, tuberous sclerosis), full gene sequence

USH1C (Usher syndrome 1C [autosomal recessive, severe]) (eg, Usher syndrome, type 1), full gene sequence

VPS13B (vacuolar protein sorting 13 homolog B [yeast]) (eg, Cohen syndrome), duplication/deletion analysis

WDR62 (WD repeat domain 62) (eg, primary autosomal recessive microcephaly), full gene sequence

© Copyright 2026 American Medical Association. All rights reserved.

Common Language Description

Molecular pathology procedures represent a specialized area of laboratory medicine focused on the analysis of genetic material to diagnose and manage various medical conditions. These tests are essential for identifying genetic disorders, cancers, infectious diseases, and assessing tissue compatibility in transplant scenarios. The complexity of these procedures is categorized into levels, with Level 8 indicating a high degree of intricacy. Specifically, Level 8 procedures involve the analysis of 26 to 50 exons through methods such as DNA sequence analysis, mutation scanning, or the evaluation of duplication and deletion variants affecting more than 50 exons. Additionally, this level encompasses the simultaneous sequence analysis of multiple genes on a single platform, which enhances the efficiency and comprehensiveness of genetic testing. The process begins with a thorough review of the patient's medical history and clinical findings, alongside results from other diagnostic tests. This comprehensive evaluation is crucial for the molecular pathologist to determine the appropriate testing strategy. Once the Level 8 test is conducted, the pathologist interprets the results, synthesizing the data into a detailed written report that outlines the findings and their implications for the patient's health. It is important to note that while specific tests are identified under CPT® Code 81407, other molecular pathology procedures that require similar expertise and resources, yet lack a more specific code, may also be reported using this code. This ensures that all relevant molecular pathology services are accurately captured for billing and documentation purposes.

© Copyright 2026 Coding Ahead. All rights reserved.

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