FH Gene - Prenatal Diagnosis

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 Prenatal Diagnosis is available for fumarase deficiency families only who have had an FH mutation identified through Fumarate hydratase (FH) Gene Sequence Analysis or FH - Known Familial Mutation Analysis performed in this laboratory or by special arrangement in advance with the director.

Indications for Testing

• Pregnancy known to be at risk for fumarase deficiency and a known FH familial mutation.

OMIM #: 136850    606812    150800   605839

Sample Requirements:

• Amniotic fluid or Cultured Amniocytes
• Chorionic Villi or Cultured Chorionic villi
• Contact laboratory genetic counselors or molecular director for specific sample requirements in advance.
• Maternal blood sample is also required for Maternal Cell Contamination studies. Send 5 mL purple top (EDTA) along with prenatal sample.

Sample handling: Specimens being sent from outside facilities should be packaged according to standard medical safety practices. The specimen should never be frozen. A cold pack should be placed in the container during warm summer months. 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: 1 week

List Price/CPT codes:  $1195.68  /  83890, 83894  (x3), 83898 (x3), 83900, 83901 (x14), 83904 (x6), 83909 (x7), 83912

Price of testing includes Maternal Cell Contamination study.