Casandra
Casandra Test Code QD65389Version 1 (DRAFT)
Performing Lab
PMP22 DNA Sequencing Test
Clinical Use
Order TestUse
Detects sequence variants in the PMP22 gene associated with hereditary neuropathies such as Charcot‑Marie‑Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP).
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
NGS (Targeted)
Biomarkers
PMP22
GeneSNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
8 mL (6 mL minimum); pediatric (0‑3 years): 2 mL (1 mL minimum)
Minimum Volume
Not provided
Container
Lavender‑top EDTA tubes (two tubes)
Collection Instructions
Label each tube with two forms of patient identification, matching requisition.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |
Related Tests
Other tests from different labs that may be relevant
PMP22 MLPA Deletion/Duplication Analysis
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Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication
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Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel
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FISH Analysis - Charcot-Marie-Tooth Neuropathy Type 1A
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FISH Analysis - Hereditary Neuropathy with Liability to Pressure Palsies
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Charcot-Marie-Tooth (CMT) - Comprehensive Panel
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