Invitae Elevated C16, C16:1, C18, and C18:1 Panel
Use
The Invitae Elevated C16, C16:1, C18 & C18:1 Panel analyzes the two genes associated with elevations of C16, C16:1, C18, and C18:1 acylcarnitines, important for diagnosing carnitine palmitoyltransferase II (CPT2) deficiency or carnitine-acylcarnitine translocase (CACT) deficiency, which are typically detected during newborn screening. This test helps guide treatment decisions by confirming the diagnosis through genetic testing, assisting in the management of symptoms such as hypoketotic hypoglycemia, hyperammonemia, and cardiomyopathy common in these conditions.
Special Instructions
The test requires either a whole blood specimen in a purple-top EDTA tube or alternative specimens such as saliva, buccal swab, or gDNA. For collection, a specimen collection kit can be requested if needed.
Limitations
The test uses full-gene sequencing and deletion/duplication analysis via NGS, covering clinically important regions, including coding exons and adjacent intronic sequences. It may not detect all structural rearrangements or variants outside these regions, such as in complex sequences or non-coding areas not guaranteed for analysis. Sensitivity and specificity are greater than 99% for smaller variants, though some larger or structural variants could be marginally less sensitive.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
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)