CPT Code(s): 81403
Service Code (IU Health): 53025516
Ordering Recommendation: DMPK mutation analysis is recommended for an individual with a clinical diagnosis of myotonic dystrophy type 1(DM-1); Carrier identification in individuals with a positive family history of DM-1.
Synonyms: DM-1 mutation analysis, DMPK CTG genotyping, CTG repeats
Methodology: Triplet Repeat Primed PCR (TP-PCR) and capillary electrophoresis. Southern analysis is performed as a send-out test, as needed, to further characterize expanded/abnormal alleles.
Performed: Monday through Friday
Reported: 6-9 days