Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication
Recommended test for suspected HNPP, appropriate first-tier test for suspected CMT1 or CMT1A; does not detect sequence variants. Recommended test if there is a known familial PMP22 deletion or duplication previously identified in a family member. A copy of the family member’s test result documenting the known familial variant is required.
Multiplex Ligation-dependent Probe Amplification
Within 14 days
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2012161||Charcot-Marie-Tooth/HNPP DelDup Specimen||31208-2|
|2012162||Charcot-Marie-Tooth/HNPP DelDup Interp||35474-6|
- Hereditary Neuropathy
- Hereditary Neuropathy with liability to Pressure Palsies (HNPP)