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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Carney Stratakis syndrome

TESTING STRATEGY

Direct mutation detection in the SDHB, SDHC and SDHD genes by a combination of sequencing and MLPA.

Presymptomatic and confirmatory testing in families with a characterised mutation. All predictive testing must be referred through a Clinical Genetics Unit to ensure that appropriate pre-test counselling and molecular genetics work-up can take place.

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10mL blood in EDTA
  • 8 weeks for full mutation screen
  • 2 weeks for presymptomatic and confirmatory tests

FURTHER INFORMATION / LINKS