Invitae Propionic Acidemia Panel
Use
The Invitae Propionic Acidemia panel analyzes PCCA and PCCB, the two genes associated with propionic acidemia (PPA), which is a life-threatening organic acidemia. It is important to test individuals with a positive newborn screen for PPA, biochemical studies consistent with PPA, suspected diagnosis based on clinical presentation, or a positive family history. Correct diagnosis and subsequent metabolic control can significantly determine long-term cognitive outcomes.
Special Instructions
This panel should be customized based on the individual's clinical or family history. The test can be modified by selecting and deselecting genes within the panel.
Limitations
The test may not detect certain types of variants such as structural rearrangements or variants in sequences with complex architecture. Single-exon copy number events might not be analyzed in rare situations. The assay does not cover promoter, non-coding exons, and other non-coding regions unless explicitly guaranteed.
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)