FH Gene Analysis

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 testing 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: two to three mL whole blood in purple top EDTA tube
  • Children (>2 years) and adults: five to seven mL whole blood in purple top EDTA tube
  • Amniotic fluid or Cultured Amniocytes
  • Chorionic Villi or Cultured Chorionic villi

Contact laboratory genetic counselors or molecular director for specific sample requirements in advance.

Note: Maternal blood sample is also required for Maternal Cell Contamination studies for prenatal samples. Send 5 mL purple top (EDTA) along with prenatal sample.

Sample Handling

Blood samples should be kept at room temperature. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday morning at the latest].

Shipping Address

Center for Human Genetics Laboratory
10524 Euclid Ave, Sixth Floor
Cleveland, OH 44106
216-983-1134

For local samples, please call Client Service (216-844-5227) to arrange for sample pick-up.

Turnaround Time

FH Sequencing – 3 weeks
FH Known Familial Mutation analysis – 1 week
FH Prenatal Diagnosis – 1 week

CPT Codes

FH Gene Sequencing: 81405
FH Prenatal Analysis: 81404
FH Known Familial Mutation Analysis: 81403

Please submit a completed Prenatal and Postnatal Cytogenetics and Molecular specimens requisition for each sample.

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