Casandra
Casandra Test Code PG39545Version 1 (DRAFT)
Performing Lab
Elevated Levels of C0/(C16+C18) Acylcarnitine via the CPT1A Gene
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
New York Approved
Methodology
NGS (Targeted)
Biomarkers
CPT1A
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided