Ordering Recommendation
Carrier screening or diagnostic testing for lipoamide dehydrogenase deficiency for individuals of Ashkenazi Jewish descent.
Mnemonic
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Tue, Fri
Reported
5-10 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
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
Reference Interval
By report
Interpretive Data
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)
Note
Hotline History
Hotline History
CPT Codes
81479
Components
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 |
Aliases
- Dihydrolipoamide dehydrogenase deficiency