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 one 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 if they are carriers and at risk of having a baby with DLD. It is standard of care to offer carrier screening to individuals of Ashkenazi Jewish descent for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, mucolipidosis type IV, Niemann-Pick disease type A and Tay-Sachs disease. If both parents are found to be carriers, prenatal diagnosis by CVS or amniocentesis is available. Our DLD mutation analysis tests for two mutations for a 95% carrier detection rate in the Ashkenazi Jewish population.
CPT Codes:
83896(4), 83900(1), 83914(2)
Specimen Requirements:
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Blood:
- ACD-A (yellow-top) or EDTA (lavender-top) tube.
- Adult: 10 ml whole blood; 30 ml whole blood if ordering multiple tests.
- Mouthwash:
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Please Note: Patient should not eat, drink, smoke or chew gum for at least one hour prior to collection. (See specimen kit for detailed instructions). Mouthwash samples can be sent when ordering up to two tests. When ordering more than two tests, blood samples are required.
- 10 ml of Scope® mouthwash that has been swished vigorously for at least 1 minute.
- Collect in orange-top 50 ml polypropylene tube.
Turnaround Time:
10-14 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226
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