Genomic Unity® Genome-Wide CNV and FMR1 Analysis

Supplementary Information

Please read the following information carefully and discuss with your healthcare provider or a genetic counselor before signing the informed consent.

Purpose

To identify copy number variants across the entire genome and expansions in the FMR1 gene that are associated with developmental delay and intellectual disabilities.

The analysis includes:

• Genome-wide copy number variants (duplications/deletions), regions of homozygosity, mobile element insertions, inversions, and aneuploidy
• Short tandem repeat expansion analysis of FMR1

Conditions

This test may identify variants linked to Fragile X syndrome, developmental delay, and other intellectual disability syndromes.

Limitations

A positive result suggests a genetic contribution but does not define the full clinical outcome.