Directory of tests

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

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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.

FURTHER INFORMATION / LINKS