Directory of tests

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Charcot Marie Tooth Neuropathy Type 1A (CMT1A)

Charcot Marie Tooth Neuropathy Type 1A (CMT1A)

TESTING STRATEGY

Detection of 1.5Mb tandem duplication at chromosome 17p11.2 by MLPA

Point mutation analysis of PMP22, MPZ (Po) and GJB1 (Cx32) genes by sequencing is also available in non-duplicated patients

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA, or DNA
  • 2 weeks for MLPA
  • 8 weeks for sequencing

FURTHER INFORMATION / LINKS

Gene Reviews CMT type 1