Invitae Elevated C3-DC Panel
Use
The Invitae Elevated C3-DC Panel analyzes genes associated with elevations of C3-DC (malonyl carnitine) acylcarnitine on newborn screening (NBS) or plasma acylcarnitine analysis. This testing may confirm a diagnosis and help guide treatment and management decisions. It targets malonic acidurias which are genetically heterogeneous, allowing for an efficient evaluation of relevant genes based on a single clinical indication. Conditions such as combined malonic and methylmalonic aciduria (CMAMMA) and malonyl-CoA decarboxylase deficiency are included.
Special Instructions
Order test directly through the Invitae platform. Preferred specimen is whole blood; alternate specimens are saliva, buccal swab, and gDNA. Request a specimen collection kit if needed.
Limitations
This test may not detect structural rearrangements (e.g., inversions, gene conversion events, translocations), or variants in sequences with complex architecture. Not guaranteed to fully resolve variant details such as mosaicism, phasing, or mapping ambiguity. Sequence changes in non-coding regions are not covered unless explicitly stated. In rare cases, patient DNA may not represent their constitutional genome due to influencing factors like neoplasms or transfusions.
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)