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CMT Advanced Eval - Initial Genetic Assessment
Test Code92963
CPT Codes
81324, 81403, 81405, 81406<br /> Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Includes
MFN2 DNA Sequencing Test, MPZ DNA Sequencing Test, PMP22 Duplication/Deletion Test
Preferred Specimen
8 mL whole blood collected in EDTA (lavender-top) tube(s), or
Pediatric 0-3 years: 2 mL whole blood
Pediatric 0-3 years: 2 mL whole blood
Minimum Volume
6 mL • 1 mL pediatric
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.
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.
Specimen stability note: DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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.
Specimen stability note: DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Turbid; Bacterial contamination
Methodology
Next Generation Sequencing, Multiplex Ligation-dependent Probe Amplification
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
No duplications/deletions detected, no sequence variation detected
Clinical Significance
Detects duplications/deletions in the PMP22 gene and sequence variations in MPZ, MFN2, and GJB1 genes.
