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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CHARGE syndrome

CHARGE syndrome

TESTING STRATEGY

Direct mutation detection in CHD7 gene by sequencing and MLPA

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA or DNA
  • 8 weeks for mutation screen
  • 2 weeks for carrier testing / family studies
  • 3 working days for prenatal diagnosis, available by prior arrangement. Please contact the laboratory

FURTHER INFORMATION / LINKS