ACADVL Comprehensive - Sequence & Deletion/Duplication Analysis
Use
The ACADVL Comprehensive - Sequence & Deletion/Duplication Analysis identifies pathogenic variants linked to very long-chain acyl-CoA dehydrogenase deficiency (VLCAD). This inherited metabolic disorder results in the inability to metabolize very long-chain fatty acids, leading to severe health issues such as cardiomyopathy, arrhythmias, and hypoglycemia. Prompt intervention is crucial as early onset forms can be fatal. Suitable for patients with a clinical diagnosis, family history, positive newborn screenings, or those planning pregnancies.
Special Instructions
This test is recommended for patients with suspected VLCAD deficiency or those with a family history of the condition. Newborn screening positives and individuals planning a pregnancy with such a family history may also consider this test. If a known familial variant is to be tested, the corresponding known variant test code (3356) should be ordered. Shipping conditions for specimens must be adhered to strictly, with skin biopsies collected in RPMI media if possible.
Limitations
Variants outside of the analyzed genes may not be detected. This analysis may not identify all possible mutations associated with VLCAD deficiency. Clinical correlation is essential, and results should be interpreted by a qualified healthcare provider with consideration of patient history and additional testing.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Fresh)
Volume
5 cubic millimeters
Minimum Volume
5 cubic millimeters
Container
Sterile container with RPMI media
Collection Instructions
Collect from a central location to enhance cell viability.
Storage Instructions
Ship at ambient temperature, protect from excessive heat.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |