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VLCAD deficiency (deletion/duplication on ACADVL gene)
ACADVL
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Specimen Requirements
| Descriptive |
Volume / Concentration 1 |
Container |
Transport temperature |
Sample viability (days) 2 |
|---|---|---|---|---|
| DNA | ≥ 100 µL [50 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
| Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
1
When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2
Maximum shipping time to ensure sample quality
Turnaround Time (Days)
- 30
Specialties
- Endocrinology, Pediatrics, Metabolic Diseases
CGC Reference
- 4902
Associated Tests
Rhabdomyolysis and metabolic muscle diseases (NGS panel of 55 genes)
Genetic carrier test (NGS panel of 101 genes)
Sudden death (NGS panel of 83 genes)
Movement diseases (WES based NGS panel for 905 genes, including CNV analysis)
VLCAD deficiency (sequence analysis of ACADVL gene)