Dihydrolipoamide Dehydrogenase (DLD)

CPT: 81479
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Test Details


  • Lipoamide Dehydrogenase (LAD)


Detect dihydrolipoamide dehydrogenase deficiency (DLD)


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


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.).


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


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.


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
450080 Dihydrolipoamide Dehydrogenase 451378 Dihydrolipoamide Dehydrogenase 51969-4
450080 Dihydrolipoamide Dehydrogenase 511946 PDF 51969-4

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