Elevated Levels of C5-hydroxyacylcarnitine (C5-OH) Panel
Use
This test is designed for individuals with clinical or suspected diagnosis of disorders that cause elevated C5-hydroxyacylcarnitine levels. It is also suitable for individuals who have been found to have elevated C5-OH through newborn screening or plasma acylcarnitine analysis. The test aims to identify genetic variants underlying these conditions to aid in more accurate diagnosis and management decisions.
Special Instructions
The test can be ordered using the Exome or Genome platforms. Exome-wide CNV analysis is available as an add-on with a specific order. STAT testing can also be chosen but will incur a surcharge. Ensure all necessary clinical information is provided for accurate interpretation. Orders must be submitted via the appropriate online or paper requisition form.
Limitations
The test is subject to technical limitations inherent to NGS methodologies and CNV detection. Not all possible mutations may be detected, and results are contingent on the quality and comprehensiveness of the provided clinical information. Tests have not undergone FDA approval; therefore, interpretative conclusions must be made judiciously.
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