Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication
Ordering Recommendation
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.
Mnemonic
Methodology
Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Refrigerated.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By Report
Interpretive Data
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Note
Hotline History
CPT Codes
81324
Components
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 |
Aliases
- Charcot-Marie-Tooth
- CMT
- Hereditary Neuropathy
- Hereditary Neuropathy with liability to Pressure Palsies (HNPP)