Invitae Low C0 Test
Use
The Invitae Low C0 Test analyzes the SLC22A5 gene, which is associated with low C0 (free carnitine) on newborn screening, plasma acylcarnitine analysis, and total and free carnitine in plasma. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Patients with primary carnitine deficiency show varying severity and may present symptoms in the infantile, childhood, or adult stages. Carnitine supplementation is a treatment modality.
Special Instructions
Contact client services with any questions. Consider the Invitae Fatty Acid Oxidation Defects Panel for broader analysis if appropriate, which can be ordered at no additional cost.
Limitations
The assay achieves >99% analytical sensitivity and specificity for variants <15bp, but sensitivity for larger insertions may be reduced. Some variants, such as structural rearrangements, may not be detected. The assay might not fully resolve details like mosaicism. Sequence analysis excludes certain non-coding regions unless explicitly stated.
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)