Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication
Also known as: VLCAD NGS
Use
This test is the preferred molecular method to diagnose or rule out very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. It can also be used for carrier testing for the reproductive partners of individuals affected by or carrying VLCAD deficiency. VLCAD deficiency is a long-chain fatty acid oxidation disorder that can lead to cardiomyopathy, hypotonia, exercise intolerance, and hypoketotic hypoglycemia.
Special Instructions
Not provided.
Limitations
This test only detects variants within the coding regions and intron-exon boundaries of the ACADVL gene. It may not detect all deletions, duplications, or insertions, particularly those less than two exons or complex inversions. The test cannot detect regulatory region variants, deep intronic variants, low-level mosaicism, somatic variants, or mtDNA mutations. Single exon deletions are reported with low sensitivity.
Methodology
NGS (Targeted)
Biomarkers
ACADVL
Gene
LOINC Codes
- 66746-9 - Specimen type
- 73735-3 - ACADVL Full Mut Anl Bld/T Seq
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or Pink (EDTA) or Yellow (ACD Solution A or B). For New York State Clients: Lavender (EDTA) or Yellow (ACD solution)
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant