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CMT Advanced Evaluation - Dominant, Demyelinating
Test Code901155
CPT Codes
81448
Includes
Connexin32 Evaluation, DNM2 DNA Sequencing Test, EGR2 DNA Sequencing Test, FGD4 DNA Sequencing Test, FIG4 DNA Sequencing Test, GDAP1 DNA Sequencing Test , LITAF/SIMPLE DNA Sequencing Test, MTMR2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, NDRG1 DNA Sequencing Test, Periaxin DNA Sequencing Test, PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test, SBF2 DNA Sequencing Test, SH3TC2 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
Minimum Volume
6 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 requistion 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 (MLPA) • Next Generation Sequencing
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
No mutations detected
Clinical Significance
Detects duplications/deletions in PMP22 and deletions in Cx32 and sequence variations in Cx32, PMP22, MPZ, EGR2, LITAF, PRX, GDAP1, DNM2, YARS, SH3TC2, MTMR2, NDRG1, FGD4, FIG4, SBF2
