Elevated Levels of C6, C8 and C10 Acylcarnitine via the ACADM Gene
Use
This test is intended for individuals with clinical features suggestive of Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, particularly those with elevated levels of C8-, C6-, and C10-acylcarnitines identified through newborn screening. It aims to confirm the diagnosis of MCAD Deficiency, a metabolic disorder that affects fatty acid oxidation. Additionally, it is suitable for reproductive partners of individuals known to have a pathogenic variant in the ACADM gene.
Special Instructions
The test is performed on platforms such as Exome or Genome, providing comprehensive analysis. STAT testing options are available to expedite results, with a turnaround time of 7 to 16 days for STAT orders. Institutional pricing requires sign in to access. Options for targeted family testing and additional related tests are available post-report.
Limitations
The test's ability to detect all genetic variants related to MCAD Deficiency may be limited by the platform and methodologies used. While NGS with CNV analysis is thorough, not all variants may be detectable, particularly those outside the targeted regions. Furthermore, the interpretation of variants depends on the quality and detail of clinical information provided, which directly impacts variant interpretation accuracy.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided