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PMP22 MLPA Deletion/Duplication Analysis

CPT

81324

Test Details

Methodology

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

Result Turnaround Time

14 - 28 days

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.

Test Includes

This test includes the following gene: PMP22.

Use

Diagnostic testing

Special Instructions

This assay currently is not available in New York state.

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.
 

Specimen Requirements

Specimen

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)

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)

Collection Instructions

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

Stability Requirements

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

Storage Instructions

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

Causes for Rejection

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