Ordering Recommendation

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




Polymerase Chain Reaction/Fluorescence Monitoring


Tue, Fri


5-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

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

Specimen Preparation

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

Storage/Transport Temperature


Unacceptable Conditions

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.

Compliance Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes



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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • Dihydrolipoamide dehydrogenase deficiency
Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants