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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Fumarate Hydratase Deficiency
Fumarate Hydratase Deficiency
Fumarate Hydratase Deficiency (Fumarase Deficiency / Fumaric aciduria)
TESTING STRATEGY
Direct mutation detection in the FH gene by sequencing.
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.
Note that mutations in the FH gene are also associated with hereditary multiple cutaneous and uterine leiomyomatosis(OMIM 150800) and hereditary leiomyomatosis and renal cell cancer (OMIM 605839)