Direct mutation detection in the FLCN gene by a combination of sequence analysis 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, or DNA
- 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 a Clinical Genetics Unit