Fumarate hydratase (FH) or fumarase is an enzymatic component of tricarboxylic acid.  It catalyzes the conversion of fumarate to malate. Fumarase acts as a tumor suppressor in familial leiomyomata.  Mutations in the FH gene, therefore, can be associated with different types of syndromes:

  • Fumarase deficiency.  Fumarase deficiency is an autosomal recessive disease characterized by developmental delay, hypotonia, cerebral atrophy, lactic and pyruvic academia and fumaric aciduria etc.
  • Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) and multiple cutaneous and uterine leiomyomata.  HLRCC is an autosomal dominant cancer predisposition syndrome with cutaneous and uterine leiomyomatosis and renal tumors.

FH Known Familial Mutation Analysis is available for family members when a mutation has been identified through analysis performed in this laboratory.  FH Prenatal Diagnosis is also available for fumarase deficiency only for families who have had a mutation identified through analysis performed in this laboratory or by special arrangement in advance with the director.

Indications for Testing

  • Confirmation of a clinical/biochemical diagnosis of fumarase deficiency
  • Confirmation of HLRCC
  • Targeted mutation analysis for known familial mutations
  • Prenatal diagnosis of previous identified familial mutations (Fumarase deficiency only)

OMIM #: 136850    606812    150800    605839

Sample Requirements:

  • Infants: 2-3 mL whole blood in purple top EDTA tube
  • Children (>2 years) and Adults: 5-7 mL whole blood in purple top EDTA tube

Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].

Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134

For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.

Turn Around Time: 4 weeks

List Price/CPT codes: $1904.32  /  83890, 83894 (x10), 83898 (x10), 83904 (x20), 83909 (x20), 83912

Please submit a completed Cytogenetics and Molecular Genetics Requisition (PDF) for each sample.