Invitae Elevated C4 Panel
Use
The Invitae Elevated C4 Panel analyzes genes associated with elevations of C4 acylcarnitine, which can be detected on newborn screening or plasma acylcarnitines. This can be indicative of conditions such as isobutyric aciduria, short chain acyl-CoA dehydrogenase deficiency, or ethylmalonic encephalopathy. Genetic testing may confirm a diagnosis, offering guidance for treatment and management.
Special Instructions
The test can be customized by deselecting genes. Preferred specimen is 3mL whole blood in a purple-top EDTA tube. Alternate specimens like saliva, buccal swab, and gDNA can also be used.
Limitations
The test covers clinically important regions of each gene, including coding exons and adjacent intronic sequences. It has >99% analytical sensitivity and specificity for SNVs, insertions, and deletions <15bp, but sensitivity may be reduced for larger insertions and deletions smaller than a full exon. Limitations include detecting structural rearrangements, sequence variants in complex regions like short tandem repeats, and promoter/non-coding sequences. Rarely, single-exon copy number events may not be analyzed due to sequence properties.
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)