The dihydrolipoamide S-acetyltransferase (DLAT) gene encodes dihydrolipoamide acetyltransferase, the E2 subunit of the mammalian pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. Dihydrolipoamide acetyltransferase contains covalently bound lipoic acid, which accepts hydroxyethyl groups from thiamine pyrophosphate bound to pyruvate dehydrogenase (E1), formed by the oxidative decarboxylation of pyruvate, and transfers them to coenzyme A, reducing lipoic acid. Mutations in this gene cause pyruvate dehydrogenase complex E2 deficiency which is associated with primary lactic acidosis, developmental delay, and neurological abnormalities in infancy and early childhood.
DLAT Known Familial Mutation Analysis is available for family members when a mutation is identified through analysis performed in this laboratory using the Dihydrolipoamide S-acetyltransferase (DLAT) Gene Sequence Analysis. DLAT 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 DLAT.
OMIM #: 608770
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