Casandra
Casandra Test Code PG90048Version 1 (DRAFT)
Performing Lab
Top 99 Genetic Causes of Developmental Delay Panel
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
New York Approved
Methodology
NGS
Biomarkers
NGS with CNV
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided