Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants
Also known as: DLD
Use
Carrier screening or diagnostic testing for lipoamide dehydrogenase deficiency, particularly for individuals of Ashkenazi Jewish descent. The test is designed to detect two pathogenic variants of the DLD gene, p.Y35X (c.104dupA) and p.G229C (c.685G>T), which are known to cause lipoamide dehydrogenase deficiency. This condition has a variable presentation from early-onset neurologic disease to adult-onset hepatic disease, with symptoms including hypotonia, lethargy, vomiting, and progressive encephalopathy.
Special Instructions
Informed consent is required for genetic testing, especially for New York patients. Counseling and informed consent are recommended to better understand the implications of the test results.
Limitations
This test will not detect variants other than the two specified: p.Y35X (c.104dupA) and p.G229C (c.685G>T). Diagnostic errors may occur due to rare sequence variations. The clinical sensitivity is 99% for Ashkenazi Jewish individuals but is unknown for other ethnicities. Analytical sensitivity and specificity exceed 99%.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | 1 month |