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hereditary peripheral neuropathy genotyping
Indications:
- hereditary peripheral neuropathy
- Charcot-Marie-Tooth disease
- hereditary spastic paraplegia
Components:
- BSCL2 gene mutation
- GJB1 genotyping
- MFN2 gene mutation
- MPZ gene mutation
- REEP1 gene mutation
- SPAST gene mutation
- SPG11 gene deletion, duplication & mutation analysis
- SPTLC1 gene mutation
Related
peripheral nerve disease; peripheral neuropathy
General
genotyping (allele testing)
References
CPT
Components
BSCL2 gene mutation
GJB1 genotyping
MFN2 gene mutation; transmembrane GTPase MFN2 gene mutation
MPZ gene mutation; myelin p0 gene mutation
REEP1 gene mutation
SPAST gene mutation; spastin gene mutation
SPG11 gene deletion, duplication & mutation analysis
SPTLC1 gene mutation