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

More general terms

• genotyping (allele testing)

Additional terms

• peripheral nerve disease; peripheral neuropathy

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