PDHA1 Gene - Prenatal Diagnosis

Pyruvate dehydrogenase complex (PDC) deficiency results in a variety of phenotypes, with metabolic and neurological manifestations. The metabolic abnormalities include elevated blood lactate and pyruvate (with a normal ratio) and specifically increased plasma alanine. Neurological manifestations may include hypotonia, lethargy, seizures, developmental delay, neuropathy, and congenital or degenerative brain abnormalities. The majority of PDC deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1). Mutations of other PDC genes are less common. The sex ratio of PDH E1-alpha deficiency appears to be approximately 1:1. Heterozygous females may manifest severe symptoms, although generally they are less severely affected than males with similar mutations, and in some cases may be asymptomatic.

PDHA1 Prenatal Diagnosis is available for families who have had a PDHA1 mutation identified through Pyruvate dehydrogenase complex deficiency - PDHA1 Gene Sequence Analysis or PDHA1 Gene- 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 pyruvate dehydrogenase deficiency and a known PDHA1 familial mutation.

OMIM #: 300502

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.