Directory of tests
For more information on prices, please contact the West Midlands Regional Genetics Laboratory:
- +44(0)121 335 8036
- bwc.genetics.lab@nhs.net
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