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Myotonic Dystrophy 2 (ZNF9/CNBP) Genetic Testing (Repeat Expansion)
This assay is not currently available in New York state.
Expected Turnaround Time
2 - 4 weeks
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Lavender-top (EDTA) tube
Draw blood into EDTA tube.
Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.
Do not freeze
Causes for Rejection
Frozen blood EDTA tube
Type 2 myotonic dystrophy results from a mutation in the CNBP gene know 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.
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Repeat-Primed PCR (QP-PCR)
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|620087||ZNF9/CNBP Repeat Expansion||230163||Specimen Status||N/A|
|620087||ZNF9/CNBP Repeat Expansion||620166||CNBP RE Result||81883-1|
|620087||ZNF9/CNBP Repeat Expansion||620089||CNBP RE Interpretaion||N/A|