Invitae Hyperammonemia Panel
Use
The Invitae Hyperammonemia Panel analyzes genes associated with enzymes and transporters responsible for ammonia production and detoxification. Hyperammonemia, characterized by excess ammonia in blood, leads to severe brain damage and death if untreated. This panel targets urea cycle disorders, organic acidemias, and other related conditions, with a comprehensive gene selection based on current evidence for efficient evaluation of disorders associated with hyperammonemia.
Special Instructions
This panel includes genes linked to increased cancer risk, such as RINT1. Clients can customize the test by removing genes.
Limitations
The assay provides >99% sensitivity and specificity for SNVs, insertions, and deletions <15bp. Large insertions/deletions and certain variant types, like structural rearrangements, may have reduced sensitivity. Some variants, due to complex sequence architecture, might not be detected. Single exon events may not be analyzed due to inherent sequence properties or reduced data quality.
New York Approved
Methodology
NGS (CGP)
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)