Elevated Levels of C14 and C14:1 Acylcarnitine via the ACADVL Gene
Use
This test is intended for individuals with clinical features indicative of Very Long Chain Acyl-CoA Dehydrogenase Deficiency or those with elevated C14:1 and C14 acylcarnitines via newborn screening consistent with this deficiency. It can confirm a clinical or suspected diagnosis of Very Long Chain Acyl-CoA Dehydrogenase Deficiency. Additionally, it serves reproductive partners of individuals known to carry a pathogenic variant in the ACADVL gene, providing essential genetic information to guide family planning.
Special Instructions
Not provided.
Limitations
The test relies on NGS with CNV analysis on either an Exome or Genome platform, which may miss variants outside its targeted capture regions or in regions with poor coverage such as GC-rich areas. Large deletions, insertions, or other structural variants might not be detected. Additionally, pseudogenes or homologous regions might interfere with assessment. Clinical correlation with biochemical, clinical, and family data is critical for an accurate interpretation of results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Follow standard blood collection procedures. Ensure compliance with appropriate forms for New York State.