DMPK Gene Repeat Expansion analysis for Myotonic Dystrophy

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by muscular dystrophy cataracts, hypogonadism, frontal balding, and ECG changes.

Details

Type 1 myotonic dystrophy results from a mutation in the DMPK gene known as a trinucleotide repeat expansion. This mutation increases in the size of the repeated CTG segment in the DMPK gene. People with type 1 myotonic dystrophy have from 50 to 5,000 CTG repeats in most cells. The number of repeats may be even greater in certain types of cells, such as muscle cells.

Test Code: MGM1808

Technique: Sanger Sequencing

Sample: Submit 5 mL (3 mL min.) Whole blood from Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE

Transportation Temperature: 2-8℃

Sample Collection Instruction: Genetic history and doctor’s prescription is mandatory. Duly filled Whole Exome Sequencing Consent Form.

Reported on: 28th Working Day by 7:00 p.m.