PMP22 MLPA Deletion/Duplication Analysis
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.
Special Instructions
This assay currently is not available in New York state. It requires whole blood, oral swab or extracted DNA (from blood or oral swab only) for testing. Specimens should be maintained at room temperature or refrigerated at 4°C. Do not freeze.
Limitations
This assay does not detect inversions, translocations, or point mutations. False positives or negatives may occur due to insufficient information about rare variants, pseudogenes, sequence variants at probe ligation sites, homologous regions, transfusions, transplants, somatic mosaicism, mislabeled samples, or erroneous family representations. Clinical interpretation is limited by available variant information and clinical details submitted with the sample. Interpretations may change over time as more data becomes available.
Methodology
Other
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Whole blood: standard phlebotomy
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
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |