Invitae Elevated C4-DC Panel
Use
The Invitae Elevated C4-DC Panel analyzes up to two genes associated with elevations of C4-DC acylcarnitine, which may confirm a diagnosis and aid in guiding treatment and management decisions. Identification of a disease-causing variant can inform testing and diagnosis of at-risk relatives. This panel evaluates patients with conditions such as SUCLA2-related mitochondrial DNA depletion syndrome (MTDPS5) and SUCLG1-related mitochondrial DNA depletion syndrome (MTDPS9), which present with elevated C4-DC and mildly elevated methylmalonic acid, as well as various metabolic and neurological symptoms.
Special Instructions
Not provided.
Limitations
The assay covers clinically important regions of genes, including coding exons and some non-coding regions. Limitations include potential reduced sensitivity for larger variants, inability to detect structural rearrangements, and challenges in analyzing certain non-coding regions. The analysis may not fully capture variant details such as mosaicism, phasing, or mapping ambiguity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
SUCLA2, SUCLG1
Gene
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)
Other tests from different labs that may be relevant