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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)