Carrier screening or diagnostic testing for lipoamide dehydrogenase deficiency for individuals of Ashkenazi Jewish descent.
Polymerase Chain Reaction/Fluorescence Monitoring
New York DOH Approval Status
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Background Information for Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants:
Characteristics: Lipoamide dehydrogenase deficiency has a variable presentation that ranges from early-onset neurologic disease to adult-onset disease which is primarily hepatic. Early-onset neurologic disease presents in infancy with hypotonia, lethargy, vomiting and progressive encephalopathy resulting in death within the first or second year of life. Adult-onset primarily hepatic disease has a variable onset from infancy to the fourth decade and presents with liver injury or failure that is usually preceded by nausea and vomiting.
Incidence: 1 in 35,000 in Ashkenazi Jewish individuals.
Inheritance: Autosomal recessive.
Cause: DLD pathogenic variants.
Variants Tested: p.Y35X (c.104dupA), p.G229C (c.685G>T).
Clinical Sensitivity: 99 percent in Ashkenazi Jewish individuals; unknown in other ethnicities.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Variants other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2013736||Lipoamide Dehydrogenase Def, Specimen|
|2013737||Lipoamide Dehydrogenase Def, Allele 1|
|2013738||Lipoamide Dehydrogenase Def, Allele 2|
|2013739||Lipoamide Dehydrogenase Def, Interp|
- Dihydrolipoamide dehydrogenase deficiency