Type 2 myotonic dystrophy results from a mutation in the CNBP gene known as a tetranucleotide repeat expansion. This mutation increases in size of the repeated CCTG segment in the CNBP gene. People with type 2 myotonic dystrophy have from 75 to more than 11,000 CCTG repeats.
Maximum reportable sizing: 373 repeats
This test was developed, and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting
Ambient - 5 days (preferred)
Refrigerated - 5 days
Do not freeze
Ship as soon as possible
Frozen specimen
Repeat-Primed PCR (QP-PCR)
See report for interpretation