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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Achondroplasia
Achondroplasia
TESTING STRATEGY
Sequencing of the FGFR3 gene to detect the p.GlyG380Arg mutation present in approximately 99% of patients with achondroplasia.
SAMPLE REQUIREMENTS & REPORTING TIME
- 5-10ml blood in EDTA, or DNA
- 10 days for postnatal analysis
Prenatal diagnosis is also available. Please contact the laboratory for further details.