In simple words: This code represents a complex genetic test performed in a lab. It analyzes a large number of specific segments within a single gene, providing detailed genetic information about various health conditions, such as certain types of muscular dystrophy, genetic eye diseases, and inherited disorders. The test helps diagnose these conditions or assess the risk of developing them.

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 sequenceATM (ataxia telangiectasia mutated) (eg, ataxia telangiectasia), full gene sequenceCDH23 (cadherin-related 23) (eg, Usher syndrome, type 1), full gene sequenceCEP290 (centrosomal protein 290kDa) (eg, Joubert syndrome), full gene sequenceCOL1A1 (collagen, type I, alpha 1) (eg, osteogenesis imperfecta, type I), full gene sequenceCOL1A2 (collagen, type I, alpha 2) (eg, osteogenesis imperfecta, type I), full gene sequenceCOL4A1 (collagen, type IV, alpha 1) (eg, brain small-vessel disease with hemorrhage), full gene sequenceCOL4A3 (collagen, type IV, alpha 3 [Goodpasture antigen]) (eg, Alport syndrome), full gene sequenceCOL4A5 (collagen, type IV, alpha 5) (eg, Alport syndrome), full gene sequenceDMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy), full gene sequenceDYSF (dysferlin, limb girdle muscular dystrophy 2B [autosomal recessive]) (eg, limb-girdle muscular dystrophy), full gene sequenceFBN1 (fibrillin 1) (eg, Marfan syndrome), full gene sequenceITPR1 (inositol 1,4,5-trisphosphate receptor, type 1) (eg, spinocerebellar ataxia), full gene sequenceLAMA2 (laminin, alpha 2) (eg, congenital muscular dystrophy), full gene sequenceLRRK2 (leucine-rich repeat kinase 2) (eg, Parkinson disease), full gene sequenceMYH11 (myosin, heavy chain 11, smooth muscle) (eg, thoracic aortic aneurysms and aortic dissections), full gene sequenceNEB (nebulin) (eg, nemaline myopathy 2), full gene sequenceNF1 (neurofibromin 1) (eg, neurofibromatosis, type 1), full gene sequencePKHD1 (polycystic kidney and hepatic disease 1) (eg, autosomal recessive polycystic kidney disease), full gene sequenceRYR1 (ryanodine receptor 1, skeletal) (eg, malignant hyperthermia), full gene sequenceRYR2 (ryanodine receptor 2 [cardiac]) (eg, catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular dysplasia), full gene sequence or targeted sequence analysis of > 50 exonsUSH2A (Usher syndrome 2A [autosomal recessive, mild]) (eg, Usher syndrome, type 2), full gene sequenceVPS13B (vacuolar protein sorting 13 homolog B [yeast])(eg, Cohen syndrome), full gene sequenceVWF (von Willebrand factor) (eg, von Willebrand disease types 1 and 3), full gene sequence

Example 1: A patient with suspected Marfan syndrome undergoes genetic testing for the FBN1 gene to confirm the diagnosis., A patient with a family history of ataxia telangiectasia undergoes testing for the ATM gene., A child with symptoms of Duchenne muscular dystrophy undergoes testing for the DMD gene.

Documentation should include the reason for testing, relevant family history, and any signs or symptoms related to the suspected condition.

** This code represents Tier 2 molecular pathology testing and is generally performed in lower volumes than Tier 1 tests.