Invitae Elevated C14 and C14:1 (VLCAD deficiency) Test
Use
The Invitae Elevated C14 and C14:1 (VLCAD deficiency) Test analyzes the ACADVL gene, which is associated with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. This genetic test can confirm a diagnosis and help guide treatment and management decisions for individuals with elevated C14 and C14:1 acylcarnitines, commonly detected in newborn screening or plasma acylcarnitine analysis. VLCAD deficiency is an autosomal recessive mitochondrial beta oxidation disorder, with a wide clinical spectrum ranging from severe neonatal presentations to mild adult-onset forms.
Special Instructions
This test is performed using next-generation sequencing (NGS) technology and analyzes clinically important regions of the gene, including coding exons and adjacent intronic sequences. Copy number is determined at a single exon resolution. Variants outside targeted regions are not analyzed, and certain variant types or structural rearrangements may not be detected. Contact client services with any questions or for further guidance on test coverage.
Limitations
The test has >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions smaller than 15bp, as well as exon-level copy number variations. However, certain limitations include potential reduced sensitivity for larger insertions/deletions and the inability to detect certain structural rearrangements. Additionally, mosaicism, phasing, and mapping ambiguities may not be fully resolved. Variants in promoter or non-coding regions are generally not analyzed unless specifically guaranteed by the assay.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)