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CMT Advanced Evaluation-Axonal
Test Code901156
CPT Codes
81403, 81404, 81479, 81406 (x3), 81405 (x4)
Includes
Connexin32 Evaluation, DNM2 DNA Sequencing Test, GARS (CMT2D) DNA Sequencing Test, GDAP1 DNA Sequencing Test , HSPB1 (CMT2F) DNA Sequencing Test, HSPB8 DNA Sequencing Test, LMNA (CMT2B1) DNA Sequencing Test, MFN2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, Neurofilament Light (NFL) DNA Sequencing Test, RAB7 (CMT2B) DNA Sequencing test, TRPV4 DNA Sequencing Test, YARS DNA Sequencing Test
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube, or
Pediatric volume: 2 mL whole blood
Pediatric volume: 2 mL whole blood
Minimum Volume
6 mL
Pediatric: 1 mL
Pediatric: 1 mL
Instructions
Informed consent is required. Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Note: 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.
Note: 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.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Multiplex Ligation-dependent Probe Amplification • Next Generation Sequencing
Setup Schedule
Set up: Varies; Report avaialble: 21-28 days
Reference Range
No sequence variants detected
Clinical Significance
Detects deletions in Cx32 and sequence variations in CX32, MFN2, MPZ, RAB7, GARS, NFL, HSPB1, GDAP1, DNM2, YARS, LMNA, TRPV4, HSPB8