Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication

2012160
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Deletion
Duplication

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Additional Technical Information

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Patient History Form for Charcot-Marie-Tooth and Hereditary Neuropathy Testing

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

CMT DD

Methodology

Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

Within 14 days

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

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.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81324

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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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Charcot-Marie-Tooth
  • CMT
  • Hereditary Neuropathy
  • Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication