Dihydrolipoamide Dehydrogenase (DLD)

CPT 81479
Synonyms
  • Lipoamide Dehydrogenase (LAD)

Test Details

Use

Detect dihydrolipoamide dehydrogenase deficiency (DLD)

Special Instructions

If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.

Methodology

DNA analysis

Additional Information

Dihydrolipoamide dehydrogenase deficiency (DLD), also known as lipoamide dehydrogenase deficiency (LAD), is an autosomal-recessive disorder that occurs at an increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of 1 in 96. DLD presents as persistent lactic acidosis with recurrent episodes of vomiting and abdominal pain. There is progressive neurological impairment, hepatomegaly, cortical blindness, stupor, and coma. Mortality is high. Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out whether they are carriers and at risk of having a baby with DLD. DLD mutation analysis tests for two mutations for a 95% carrier detection rate in the Ashkenazi Jewish population.

Specimen Requirements

Information on collection, storage, and volume

Specimen

Whole blood, amniotic fluid, chorionic villus sample (CVS) (Submission of maternal blood is required for fetal testing.), or LabCorp buccal swab kit (Buccal swab collection kit contains instructions for use of a buccal swab.).

Volume

7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T-25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature.