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Dihydrolipoamide S-Acetyltransferase DLAT Gene Analysis

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 has been identified. DLAT Prenatal Diagnosis is also available for families who have had a mutation identified or by special arrangement in advance with the director. DLAT gene sequencing is available as part of a panel of PDC deficiency genes sequenced. The PDC Deficiency panel also includes PDHA gene sequencing, PDHB gene sequencing, DLD gene sequencing and PDHX gene sequencing.

Indications for Testing

  • Confirmation of a clinical/biochemical diagnosis of Pyruvate Dehydrogenase Complex deficiency
  • Targeted mutation analysis for known familial mutations
  • Pregnancy known to be at risk for pyruvate dehydrogenase deficiency and a known DLAT familial mutation.

OMIM #: 608770

Sample Requirements

  • Infants: 2-3 mL whole blood in purple top EDTA tube
  • Children (>2 years) and adults: 3-4 mL whole blood in purple top EDTA tube
  • Amniotic fluid or cultured amniocytes
  • Chorionic villi or cultured chorionic villi

Contact laboratory genetic counselors or molecular director for specific sample requirements in advance.

Note: Maternal blood sample is also required for prenatal samples. Send five mL purple top EDTA along with prenatal sample.

Cultured fibroblasts and tissue remaining from fresh liver/muscle biopsy performed for enzyme analysis may also be used for DNA analysis. Cell Line Build Up is available, as is DNA Extract and Store. Enzyme analysis of PDC and its E2 component may be arranged directly with the Center for Inherited Disorders of Metabolism (CIDEM).

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 morning at the latest).

Shipping Address

Center for Human Genetics Laboratory
10524 Euclid Avenue, Sixth Floor
Cleveland, OH 44106

For local samples, please call Client Service (216-844-5227) to arrange for sample pick-up.

Turnaround Time

DLAT equencing – 3 weeks
DLAT Known Familial Mutation analysis – 1 week
DLAT Prenatal Diagnosis – 1 week

CPT Code

DLAT Gene Sequencing: 81406
DLAT Prenatal Analysis: 81404
DLAT Known Familial Mutation analysis: 81403

Please submit a completed Molecular Requisition for each sample.