Invitae Elevated C3 Panel
Use
The Invitae Elevated C3 Panel analyzes genes associated with elevations of C3 (propionylcarnitine) on newborn screening or plasma acylcarnitine profiles. Genetic testing can confirm a diagnosis and guide treatment and management decisions for conditions related to C3 elevations. Conditions associated with elevated C3 levels can lead to severe complications if untreated, such as lethargy, seizures, and metabolic acidosis, making early diagnosis critical for improving long-term outcomes.
Special Instructions
The test can be customized by removing certain genes as needed before order. The panel includes the analysis of coding exons with 10 to 20 base pairs of adjacent intronic sequence, covering clinically important regions and non-coding variants. Contact client services for specific questions regarding test limitations or analysis regions.
Limitations
The assay achieves over 99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions less than 15bp, and exon-level deletions and duplications. Detection may be marginally reduced for larger insertions/deletions under a full exon. Certain variants, like structural rearrangements or variants in complex sequences, may not be detected. Additionally, mosaicism, phasing, or mapping ambiguity may not be fully resolved. The test reflects analysis from a genomic DNA sample which may not represent the constitutional genome in some cases (e.g., hematolymphoid neoplasm, bone marrow transplant).
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)