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- Lipoamide Dehydrogenase (LAD)
Detect dihydrolipoamide dehydrogenase deficiency (DLD)
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.
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
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
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|