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
Not provided.
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
ACADVL
Gene
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)
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