Invitae Elevated C5 Panel
Use
The Invitae Elevated C5 Panel is designed to analyze the two genes associated with elevations of C5 acylcarnitine found in newborn screening or plasma acylcarnitine analysis. This genetic testing can confirm diagnoses such as isovaleric acidemia (IVA) and short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, aiding in guiding treatment and management decisions. Patients with IVA may experience a range of symptoms from mild to severe, including metabolic crises and developmental delays, whereas those diagnosed with SBCAD deficiency may appear asymptomatic due to expanded newborn screening.
Special Instructions
The test utilizes a full-gene sequencing and deletion/duplication analysis via NGS. Invitae's lab is CAP-accredited and CLIA-certified. Early molecular diagnosis can significantly impact treatment outcomes, especially in severely affected patients.
Limitations
The assay covers clinically significant regions of the genes including coding exons and select non-coding variants. However, variants outside these regions, or complex structural variants, may not be detected. Single exon copy number changes may also be missed in rare cases due to data quality issues. Variants in certain non-coding regions are not analyzed, and limitations specific to the genes will be noted in the report.
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)