PGxome - Whole Exome Test (Proband Only)
Use
The PGxome Whole Exome Test is designed for individuals with congenital anomalies, intellectual disability, developmental delay, autism spectrum disorder, unexplained epilepsy, suspected diagnoses with significant genetic heterogeneity, and clinical features suggestive of an underlying genetic diagnosis not aligned with a well-defined syndrome. It is also suitable for cases with previously unresolved genetic testing and non-ongoing fetal cases with a suspected genetic cause.
Special Instructions
Clinical information is required for comparators for accurate interpretation. Healthcare Provider Statement is required for specimens collected in NY. Results will be reported directly to ordering healthcare providers only.
Limitations
This test targets most but not all coding parts of genes, covering approximately 1.5% of all genetic material. Interpretation is limited by current available data, though future predictions may improve as more knowledge is accumulated. Not all genetic changes can be detected, including some rearrangements, inversions, and mosaicism. Issues like non-paternity or undisclosed adoption may affect results; these must be reported accurately.
New York Approved
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
3-5 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3-5 ml
Minimum Volume
Not provided