In simple words: This code represents a complex genetic test performed in a lab. It analyzes specific parts of genes (exons) to identify changes, like missing or duplicated sections, that may cause genetic disorders. This test helps diagnose rare genetic conditions when other tests are inconclusive. It's important to understand this is a technical lab procedure and separate billing might apply for specimen collection and physician interpretation of the results.

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 sequenceAGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase) (eg, glycogen storage disease type III), full gene sequenceAHI1 (Abelson helper integration site 1) (eg, Joubert syndrome), full gene sequenceAPOB (apolipoprotein B) (eg, familial hypercholesterolemia type B) full gene sequenceASPM (asp [abnormal spindle] homolog, microcephaly associated [Drosophila]) (eg, primary microcephaly), full gene sequenceCHD7 (chromodomain helicase DNA binding protein 7) (eg, CHARGE syndrome), full gene sequenceCOL4A4 (collagen, type IV, alpha 4) (eg, Alport syndrome), full gene sequenceCOL4A5 (collagen, type IV, alpha 5) (eg, Alport syndrome), duplication/deletion analysisCOL6A1 (collagen, type VI, alpha 1) (eg, collagen type VI-related disorders), full gene sequenceCOL6A2 (collagen, type VI, alpha 2) (eg, collagen type VI-related disorders), full gene sequenceCOL6A3 (collagen, type VI, alpha 3) (eg, collagen type VI-related disorders), full gene sequenceCREBBP (CREB binding protein) (eg, Rubinstein-Taybi syndrome), full gene sequenceF8 (coagulation factor VIII) (eg, hemophilia A), full gene sequenceJAG1 (jagged 1) (eg, Alagille syndrome), full gene sequenceKDM5C (lysine demethylase 5C) (eg, X-linked intellectual disability), full gene sequenceKIAA0196 (KIAA0196) (eg, spastic paraplegia), full gene sequenceL1CAM (L1 cell adhesion molecule) (eg, MASA syndrome, X-linked hydrocephaly), full gene sequenceLAMB2 (laminin, beta 2 [laminin S]) (eg, Pierson syndrome), full gene sequenceMYBPC3 (myosin binding protein C, cardiac) (eg, familial hypertrophic cardiomyopathy), full gene sequenceMYH6 (myosin, heavy chain 6, cardiac muscle, alpha) (eg, familial dilated cardiomyopathy), full gene sequenceMYH7 (myosin, heavy chain 7, cardiac muscle, beta) (eg, familial hypertrophic cardiomyopathy, Liang distal myopathy), full gene sequenceMYO7A (myosin VIIA) (eg, Usher syndrome, type 1), full gene sequenceNOTCH1 (notch 1) (eg, aortic valve disease), full gene sequenceNPHS1 (nephrosis 1, congenital, Finnish type [nephrin]) (eg, congenital Finnish nephrosis), full gene sequenceOPA1 (optic atrophy 1) (eg, optic atrophy), full gene sequencePCDH15 (protocadherin-related 15) (eg, Usher syndrome, type 1), full gene sequencePKD1 (polycystic kidney disease 1 [autosomal dominant]) (eg, polycystic kidney disease), full gene sequencePLCE1 (phospholipase C, epsilon 1) (eg, nephrotic syndrome type 3), full gene sequenceSCN1A (sodium channel, voltage-gated, type 1, alpha subunit) (eg, generalized epilepsy with febrile seizures), full gene sequenceSCN5A (sodium channel, voltage-gated, type V, alpha subunit) (eg, familial dilated cardiomyopathy), full gene sequenceSLC12A1 (solute carrier family 12 [sodium/potassium/chloride transporters], member 1) (eg, Bartter syndrome), full gene sequenceSLC12A3 (solute carrier family 12 [sodium/chloride transporters], member 3) (eg, Gitelman syndrome), full gene sequenceSPG11 (spastic paraplegia 11 [autosomal recessive]) (eg, spastic paraplegia), full gene sequenceSPTBN2 (spectrin, beta, non-erythrocytic 2) (eg, spinocerebellar ataxia), full gene sequenceTMEM67 (transmembrane protein 67) (eg, Joubert syndrome), full gene sequenceTSC2 (tuberous sclerosis 2) (eg, tuberous sclerosis), full gene sequenceUSH1C (Usher syndrome 1C [autosomal recessive, severe]) (eg, Usher syndrome, type 1), full gene sequenceVPS13B (vacuolar protein sorting 13 homolog B [yeast]) (eg, Cohen syndrome), duplication/deletion analysisWDR62 (WD repeat domain 62) (eg, primary autosomal recessive microcephaly), full gene sequence

Example 1: A patient presents with symptoms suggestive of familial hyperinsulinism. Full gene sequencing of the ABCC8 gene is negative. Deletion/duplication analysis using code 81407 is performed to identify potential deletions or duplications within the ABCC8 gene that could be causing the patient's condition., A patient with a suspected diagnosis of Alport syndrome undergoes full gene sequencing of the COL4A4 gene. The sequencing is negative, so deletion/duplication analysis by CGH (81407) is performed on the COL4A5 gene to detect any copy number variations that could be causing the disease., A patient is suspected of having Joubert syndrome. Deletion/duplication analysis by CGH (81407) is performed on the AHI1 and TMEM67 genes to detect copy number variants, as these are known to be associated with the syndrome.

Medical record documentation should include the patient's clinical presentation, family history, and any prior genetic testing results. The rationale for ordering this specific deletion/duplication analysis should be clearly documented, including the suspected diagnosis and the genes being tested. Results of the analysis, including the presence or absence of any deletions or duplications, should be documented in the medical record.