Directory of tests

For more information on prices, please contact the West Midlands Regional Genetics Laboratory:

For referral information, please see the West Midlands Regional Genetics Laboratory page.

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CADASIL

CADASIL

TESTING STRATEGY

Automated sequence analysis is performed to detect pathogenic mutations in exons 2 to 6 of the NOTCH3 gene. This analysis would be expected to detect mutations in approximately 86% of patients diagnosed with CADASIL (Nils Peters et al., Arch Neurol. 2005; 62: 1091-1094).

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA or DNA.
  • 8 weeks for mutation screen.
  • 2 weeks for testing for a known mutation.
  • 3 working days (from receipt of sample) for prenatal diagnosis, available by prior arrangement. Please contact the laboratory.

FURTHER INFORMATION / LINKS

Gene Reviews CADASIL