Top 99 Genetic Causes of Developmental Delay Panel
Use
This test is designed for individuals with developmental delay who have a clinical or suspected diagnosis, as well as families seeking a molecular diagnosis for their child with delays. It targets genes associated with the highest predicted diagnostic yields and includes only well-established disease genes, thus reducing the VUS burden.
Special Instructions
STAT testing is available at additional cost, which adds 25% to the price. Exome-wide CNV analysis is included with any PGxome-based or custom panel order, but not available for PG-Select panels, Sanger sequencing, and other test methods.
Limitations
The test is not suitable for whole exome or genome sequencing when neither is accessible. Variants of uncertain significance (VUS) are minimized by including only well-established disease genes, but some limitations in diagnostic yield may still exist compared to full exome/genome sequencing.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided