Directory of tests

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Charcot-Marie-Tooth Neuropathy Type 2A (CMT2A)

Charcot-Marie-Tooth Neuropathy Type 2A (CMT2A)

TESTING STRATEGY

Automated sequence analysis of the coding exons (exons 3-19) of mitofusin 2 (MFN2).
MFN2 mutations have been reported to occur in 11-33% of patients with CMT type 2 (Verhoeven et al., 2006, Brain. 129: 2093-2102).

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA, or DNA
  • 8 weeks for mutation screen
  • 2 weeks for confirmation / family studies

FURTHER INFORMATION / LINKS