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Athena #047 CMT Advanced Evaluation - Demyelinating (#4007)
MessageHereditary Neuropathy 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).
Test Code
4007
CPT Codes
81324(1), 81325(1), 81403(1), 81404(2), 81405(3), 81406(2), 81479(1)
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 Sequencin
Preferred Specimen
Whole Blood 15 mL
Transport Container
Lavender top (EDTA)
Transport Temperature
Room temperature
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Frozen
Methodology
MLPA and Next Generation Sequencing
Report Available
28 days
Reference Range
No mutations detected
