Carney Stratakis syndrome
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