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.