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 Prenatal Diagnosis is available for families who have had a DLAT mutation identified through Dihydrolipoamide S-acetyltransferase (DLAT) Gene Sequence Analysis or DLAT 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 DLAT familial mutation.

OMIM #: 608770

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 and write in DLAT with familial mutation. Contact laboratory for approval prior to sending sample.