Description
DMPK trinucleotide repeat analysis is a molecular test used to identify expanded CTG repeats in the gene associated with type 1 myotonic dystrophy. Molecular testing is useful to confirm the diagnosis and to identify the disease-causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Test code(s)
BMG-340
TAT
5-7 weeks
Method
NGS
Accepted Sample requirements
EDTA Blood ,DNA