Myotonic Dystrophy 2 (ZNF9/CNBP) Genetic Testing (Repeat Expansion)

CPT: 81187

Special Instructions

This assay is not currently available in New York state.


Expected Turnaround Time

14 - 28 days


Specimen Requirements


Specimen

Whole blood


Volume

4 mL


Minimum Volume

1 mL


Container

Lavender-top (EDTA) tube


Collection

Draw blood into EDTA tube.


Storage Instructions

Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.


Stability Requirements

Temperature

Period

Room temperature

5 days

Refrigerated

5 days

Frozen

Do not freeze


Causes for Rejection

Frozen blood EDTA tube


Test Details


Use

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.


Limitations

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.


Methodology

Repeat-Primed PCR (QP-PCR)


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