PGmax™ - Intellectual Disability, Epilepsy, and Autism (IDEA) Panel
Use
The PGmax™ IDEA Panel is designed for individuals with a clinical or suspected diagnosis of intellectual disability, epilepsy, and/or autism spectrum disorder. The test aims to identify genetic causes that may contribute to these conditions, helping healthcare providers to make a more precise diagnosis, guide treatment decisions, and provide genetic counseling. This test is particularly recommended for males who have tested negative for Fragile X syndrome, offering a comprehensive analysis of genes associated with intellectual and developmental disabilities.
Special Instructions
Not provided.
Limitations
This panel tests for a wide range of genetic variations but may not detect all possible mutations linked to intellectual disability, epilepsy, or autism. As the test uses NGS and CNV analysis, it may have limitations in detecting certain types of mutations such as structural rearrangements, repeat expansions, and certain low-level mosaics. False negatives are possible if the alterations are in regions not well covered by the sequencing platform or occur in a manner not detectable by the chosen methodologies.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
Gene
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided