Ordering Recommendation

Carrier screening or diagnostic testing for lipoamide dehydrogenase deficiency for individuals of Ashkenazi Jewish descent.

Mnemonic
DLD
Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Tue, Fri

Reported

5-10 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; 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.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
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
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Aliases
  • Dihydrolipoamide dehydrogenase deficiency
Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants