MPZ DNA Sequencing Test

Test Code

Test Details

Test code: 134
Type of disorder: Peripheral Neuropathy, Hereditary
Disease(s) tested for: Charcot-Marie-Tooth Disease (CMT), Type 1B (CMT1B), Charcot-Marie-Tooth Disease (CMT), CMT2I (CMT Type 2I), Charcot-Marie-Tooth Disease (CMT), CMT Type 2J (CMT2J)
Genes Included: MPZ
Profiles that contain this test:
Informed Consent Required: This test requires physician attestation that patient consent has been received
Patents: 5,876,927 5,723,593

Technical Information

Clinical Significance: Detects sequence variations in the Myelin Protein Zero gene

Typical Presentation: CMT with a family history of MPZ mutations identified in a proband
Methodology: Next Generation Sequencing
Reference Range: No sequence variants detected

CPT Coding

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

CPT: 81405(1)

Specimen Requirements

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood

Shipping Considerations

Transport Temperature: Room temperature
Set-up/Analytic Time: 21-28 days

Additional Resources

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