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

CPT: 81187
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Special Instructions

This assay is not currently available in New York state.


Expected Turnaround Time

2 - 4 weeks



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 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.


Limitations

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)


LOINC® Map

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

For Providers

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The LOINC® codes are copyright © 1994-2018, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf