PMP22 MLPA Deletion/Duplication Analysis

CPT: 81324
Updated on 12/6/2022

Test Includes

This test includes the following gene: PMP22.

This test includes the following gene: PMP22.


Special Instructions

This assay is not currently available in New York state.


Expected Turnaround Time

14 - 28 days


Genes Assessed


Specimen Requirements


Specimen

Whole blood; oral swab or extracted DNA (from blood or oral swab only)

Whole blood

Whole blood; oral swab or extracted DNA (from blood or oral swab only)


Volume

Whole blood: 4 mL, oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

4 mL

Whole blood: 4 mL, oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Minimum Volume

Whole blood: 2 mL; oral swab: 1 swab; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Container

Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Lavender-top (EDTA) tube

Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Collection

Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Draw blood into EDTA tube.

Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

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

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.


Stability Requirements

  • Room temperature: whole blood: 14 days; swab: 60 days
  • Refrigerated: whole blood: 30 days; swab: 60 days
  • Frozen: do not freeze

Temperature

Period

Room temperature

5 days

Refrigerated

5 days

Frozen

Do not freeze

  • Room temperature: whole blood: 14 days; swab: 60 days
  • Refrigerated: whole blood: 30 days; swab: 60 days
  • Frozen: do not freeze

Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

Frozen blood EDTA tube

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container


Test Details


Use

Diagnostic testing

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.

Diagnostic testing


Limitations

This assay does not detect inversions, translocations or point mutations. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, pseudogenes, the presence of a sequence variant at a probe ligation site, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
 

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

This assay does not detect inversions, translocations or point mutations. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, pseudogenes, the presence of a sequence variant at a probe ligation site, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

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 (MLPA) to identify copy number variants (CNVs)

Multiplex Ligation-dependent Probe Amplification

Multiplex Ligation-Dependent Probe Amplification (MLPA) to identify copy number variants (CNVs)


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