Birt–Hogg–Dubé | Directory of genetics tests

Birt–Hogg–Dubé

TESTING STRATEGY

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

• GeneReviews BHD
• OMIM #135150 BHD
• OMIM*607273 FLCN gene
• OMIM #173600 primary spontaneous pneumothorax