PMP22 MLPA Deletion/Duplication Analysis

CPT: 81324

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

Mutations in the PMP22 gene cause several forms of a neurological disorder called Charot-Marie-Tooth disease. This disorder damamges the peripheral nerves, which can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs and hands.


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

Multiplex Ligation-dependent Probe Amplification


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