Elevated Levels of C0/(C16+C18) Acylcarnitine via the CPT1A Gene
Use
The test is intended for individuals with clinical or suspected diagnosis of carnitine palmitoyltransferase 1A deficiency, individuals with elevated C0/(C16+C18) acylcarnitine ratio on newborn screening, and reproductive partners of individuals with a known pathogenic or likely pathogenic variant in the CPT1A gene.
Special Instructions
The test utilizes NGS with CNV on either Exome or Genome platform. Specimens from various sources such as Blood, DNA, Buccal, Saliva, and Tissue are accepted. Consider Stat testing for expedited results.
Limitations
This test detects sequence variants and CNVs in the CPT1A gene using next-generation sequencing technology. The test is not cleared or approved by the FDA. False positives or negatives may occur; interpretation is based on current scientific understanding and may require periodic re-evaluation.
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