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CMT Advanced Evaluation - Comprehensive
Test Code901137
CPT Codes
81448
Includes
Connexin32 Evaluation, DNM2 DNA Sequencing Test, EGR2 DNA Sequencing Test, FGD4 DNA Sequencing Test, FIG4 DNA Sequencing Test, GARS (CMT2D) DNA Sequencing Test, GDAP1 DNA Sequencing Test , HSPB1 (CMT2F) DNA Sequencing Test, HSPB8 DNA Sequencing Test, LITAF/SIMPLE DNA Sequencing Test, LMNA (CMT2B1) DNA Sequencing Test, MFN2 DNA Sequencing Test, MTMR2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, NDRG1 DNA Sequencing Test, Neurofilament Light (NFL) DNA Sequencing Test, Periaxin DNA Sequencing Test, PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test, RAB7 (CMT2B) DNA Sequencing test, SBF2 DNA Sequencing Test, SH3TC2 DNA Sequencing Test, TRPV4 DNA Sequencing Test, YARS DNA Sequencing Test
Special Notes: Test will be performed in a reflexive manner. PMP22 Duplication/deletion testing will be performed first via MLPA and all non-positives will reflex to Next Generation Sequencing of all remaining genes and MLPA analysis of GJB1 (Cx32).
Special Notes: Test will be performed in a reflexive manner. PMP22 Duplication/deletion testing will be performed first via MLPA and all non-positives will reflex to Next Generation Sequencing of all remaining genes and MLPA analysis of GJB1 (Cx32).
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 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.
Stability Restrictions: Specimens must arrive at Chantilly Monday through Thursday. Do not freeze.
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.
Stability Restrictions: Specimens must arrive at Chantilly Monday through Thursday. Do not freeze.
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 (MLPA) • Next Generation Sequencing
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
No duplications/deletions detected, no sequence variation
detected.
detected.
Clinical Significance
Detects duplications/deletions in PMP22 and deletions in Cx32 and sequence variations in Cx32, PMP22, MFN2, MPZ, EGR2, LITAF, PRX, GDAP1, RAB7, GARS, NFL, HSPB1, LMNA, FIG4, SH3TC2, DNM2, YARS, FGD4, NDRG1, TRPV4, HSPB8, MTMR2, and SBF2
