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.
Immediately after collection, mix tube thoroughly by gentle inversion, 8 - 10 times, to prevent clotting
Lavender (EDTA), 4mL
Ambient (preferred) - 5 days
Refrigerated – 5 days
Frozen – NO
Frozen blood EDTA tube
Repeat-primed PCR (QP-PCR)
# of repeats
Maximum reportable sizing: 150 repeats
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.