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Test Name:PMP22 duplication/deletion
Test Number:994
Collect:8 mL EDTA whole blood - lavender
Minimum Volume:2 mL
Container:Lavender-top (EDTA) tube
Processing:
Transport/Stability:Ambient (preferred)
Avoid freezing
Alternate Names:Charcot-Marie-Tooth Disease Type 1 DNA Test
CMT1A DNA Test

MSO
LAB994
Performing Lab:Athena Diagnostics Inc (131) via LabCorp (818593); R-NX
Days Set Up:
Expected TAT:2 - 4 weeks
Ref. Ranges:CMT1A: Normal - no duplication
HNPP: Normal - no deletion
Collection/
Processing Details:
Useful for:
Detects rearrangements in the PMP22 gene. This test performs both duplication and deletion analysis to detect the cause of CMT1A and HNPP. Typical Presentation: CMT with a family history of a PMP22 duplication or a deletion identified in a proband.


Method:Multiplex Ligation-dependent Probe Amplification (MLPA)
CPT Codes:
Supply Connection:10 mL Lavender (EDTA) tube
Date Created:05/24/2019
Revised Date:05/24/2019