Pyruvate dehydrogenase, the first component (E1) of the pyruvate dehydrogenase complex (PDC), is a homotetramer consisting of 2 alpha subunits (encoded by PDHA1 on chromosome X) and 2 beta subunits (encoded by PDHB on chromosome 3). The enzyme, which is found in mitochondria, catalyzes thiamine pyrophosphate dependent decarboxylation of pyruvate, and together with other catalytic components of PDC converts pyruvate, coenzyme A, and NAD to acetyl-CoA, CO2, and NADH. Patients with PDHB mutations present with lactic acidemia and neurological dysfunction (similar to those with PDHA1 mutations) and reduced PDC activity in cultured skin fibroblasts, lymphocytes, or muscle.

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

OMIM #: 179060

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.

Please submit a completed Prenatal Screening Requisition (PDF) and write in PDHB with familial mutation. Contact laboratory for approval prior to sending sample.