PGxome® - Rapid Whole Exome Test
Use
The PGxome® - Rapid Whole Exome Test is designed for seriously ill individuals who may benefit from a rapid genetic diagnosis to impact acute medical management. This test is suitable for individuals with suspected diagnoses associated with genetic heterogeneity or clinical features suggesting an underlying genetic condition that does not align with known syndromes.
Special Instructions
Not provided.
Limitations
The test analyzes whole exome sequencing but cannot capture all genetic variations. It focuses on coding regions, and interpretation of results is based on available genetic data, which can change over time as research progresses. The test might not detect all types of genetic changes, such as low-level mosaicism or certain CNVs.
New York Approved
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3-5 ml
Minimum Volume
Not provided