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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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
- It is recommended that testing for this condition occurs only after appropriate genetic counselling by aClinical Genetics Unit
- GeneReviews PP
- OMIM #171300 (pheochromocytoma) & #168000 PGL1 (SDHD) & #605373 PGL3 (SDHC) & #115310 PGL4 (SDHB) & #606864 Carney Stratakis syndrome