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
Not provided.
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
PCCA, PCCB
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