CPT® Code 81408

Official Description

Molecular pathology procedure, Level 9 (eg, analysis of >50 exons in a single gene by DNA sequence analysis)

ABCA4 (ATP-binding cassette, sub-family A [ABC1], member 4) (eg, Stargardt disease, age-related macular degeneration), full gene sequence

ATM (ataxia telangiectasia mutated) (eg, ataxia telangiectasia), full gene sequence

CDH23 (cadherin-related 23) (eg, Usher syndrome, type 1), full gene sequence

CEP290 (centrosomal protein 290kDa) (eg, Joubert syndrome), full gene sequence

COL1A1 (collagen, type I, alpha 1) (eg, osteogenesis imperfecta, type I), full gene sequence

COL1A2 (collagen, type I, alpha 2) (eg, osteogenesis imperfecta, type I), full gene sequence

COL4A1 (collagen, type IV, alpha 1) (eg, brain small-vessel disease with hemorrhage), full gene sequence

COL4A3 (collagen, type IV, alpha 3 [Goodpasture antigen]) (eg, Alport syndrome), full gene sequence

COL4A5 (collagen, type IV, alpha 5) (eg, Alport syndrome), full gene sequence

DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy), full gene sequence

DYSF (dysferlin, limb girdle muscular dystrophy 2B [autosomal recessive]) (eg, limb-girdle muscular dystrophy), full gene sequence

FBN1 (fibrillin 1) (eg, Marfan syndrome), full gene sequence

ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1) (eg, spinocerebellar ataxia), full gene sequence

LAMA2 (laminin, alpha 2) (eg, congenital muscular dystrophy), full gene sequence

LRRK2 (leucine-rich repeat kinase 2) (eg, Parkinson disease), full gene sequence

MYH11 (myosin, heavy chain 11, smooth muscle) (eg, thoracic aortic aneurysms and aortic dissections), full gene sequence

NEB (nebulin) (eg, nemaline myopathy 2), full gene sequence

NF1 (neurofibromin 1) (eg, neurofibromatosis, type 1), full gene sequence

PKHD1 (polycystic kidney and hepatic disease 1) (eg, autosomal recessive polycystic kidney disease), full gene sequence

RYR1 (ryanodine receptor 1, skeletal) (eg, malignant hyperthermia), full gene sequence

RYR2 (ryanodine receptor 2 [cardiac]) (eg, catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular dysplasia), full gene sequence or targeted sequence analysis of > 50 exons

USH2A (Usher syndrome 2A [autosomal recessive, mild]) (eg, Usher syndrome, type 2), full gene sequence

VPS13B (vacuolar protein sorting 13 homolog B [yeast]) (eg, Cohen syndrome), full gene sequence

VWF (von Willebrand factor) (eg, von Willebrand disease types 1 and 3), full gene sequence

Common Language Description

Molecular pathology procedures are specialized tests conducted at the molecular level to aid in the diagnosis, treatment, and prognostic evaluation of various genetic disorders, cancers, infectious diseases, and to assess tissue compatibility in transplant procedures. These procedures are categorized by complexity, with different levels reflecting the extent of professional involvement and laboratory resources required. Specifically, Level 9 molecular pathology procedures, as denoted by CPT® Code 81408, involve the analysis of more than 50 exons within a single gene through DNA sequence analysis. This extensive analysis allows for a comprehensive understanding of genetic variations that may contribute to specific diseases. The molecular pathologist begins by reviewing the patient's medical history, clinical findings, and results from other diagnostic tests to contextualize the analysis. Following this, the Level 9 test is performed, which encompasses a range of specific genes associated with various conditions, including but not limited to Stargardt disease, ataxia telangiectasia, Usher syndrome, and several types of muscular dystrophy. Each of these conditions is linked to mutations in particular genes, and the full gene sequence is analyzed to identify potential pathogenic variants. After the test is completed, the molecular pathologist interprets the results and compiles a detailed written report that outlines the findings, which is crucial for guiding further clinical decisions and patient management.