PMP22 Deletion/Duplication
Use
This test detects deletions or duplications involving the PMP22 gene, which are the most common causes of hereditary neuropathy: a 1.5 Mb deletion including PMP22 leading to HNPP (approximately 80 % of cases), and PMP22 duplication causing CMT1A (about 70–80 % of cases). A molecular diagnosis can inform management, recurrence risk, and cascade testing in family members.
Special Instructions
Targeted exon‑level array CGH is performed and any CN alterations are confirmed by quantitative PCR or another appropriate method. Sequencing and del/dup analysis of other genes on the hereditary neuropathy panel is available separately if this test is negative.
Limitations
This assay may not detect low‑level mosaicism, rare polymorphisms may cause false results, and if results do not match clinical findings, additional testing should be considered. Results should be interpreted in context of clinical findings, family history, and other lab data.
New York Approved
Methodology
Chromosomal / Cytogenetics
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
EDTA tube
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | refrigerated up to 7 days |