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 Known Familial Mutation Analysis is available for family members when a mutation is identified through analysis performed in this laboratory using the Pyruvate dehydrogenase complex deficiency - PDHB Gene Sequence Analysis. PDHB Prenatal Diagnosis is also available 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:
Targeted mutation analysis for known familial mutations in PDHB.
OMIM #: 179060
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: 2 weeks
List price/CPT codes: $205.93 / 83890, 83898, 83894, 83904 (x2), 83909 (x2), 83912