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CMT Advanced Evaluation-Nonprevalent
Test Code92967
CPT Codes
81404 (x3), 81405 (x3), 81406 (x4), 81479<br>Restricted Client Code
Includes
Charcot-Marie-Tooth 4C (CMT4C) SH3TC2 DNA Sequencing Test, Connexin32 Evaluation, DNM2 DNA Sequencing Test, EGR2 DNA Sequencing Test, FGD4 DNA Sequencing Test, FIG4 (CMT) DNA Sequencing Test, GARS DNA Sequencing Test, GDAP1 DNA Sequencing Test, HSPB1 DNA Sequencing Test, HSPB8 DNA Sequencing Test, LITAF/SIMPLE DNA Sequencing Test, LMNA (CMT) DNA Sequencing Test, MTMR2 DNA Sequencing Test, NDRG1 DNA Sequencing Test, Neurofilament Light (NFL) DNA Sequencing Test, PMP22 DNA Sequencing Test, PRX DNA Sequencing Test, RAB7A DNA Sequencing Test, SBF2 DNA Sequencing Test, TRPV4 DNA Sequencing Test, YARS DNA Sequencing Test
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Informed consent 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 notes: 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 notes: 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 (MLPA)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
No deletions detected, no sequence variation detected
Clinical Significance
Detects deletions in the GJB1(Cx32) gene and sequence variations in PMP22, EGR2, LITAF, PRX, GDAP1, RAB7, GARS, NFL, HSPB1, LMNA, FIG4, SH3TC2, DNM2, YARS, FGD4, NDRG1, TRPV4, HSPB8, MTMR2, SBF2.
