PMP22 MLPA Deletion/Duplication Analysis

Whole blood

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

4 mL

Whole blood: 4 mL, oral swab: 3 swabs; 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)

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

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. 

Multiplex Ligation-dependent Probe Amplification

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