Genomic Unity® X-linked Intellectual Disability Plus Analysis
Use
The Genomic Unity® X-linked Intellectual Disability Plus Analysis is a diagnostic test designed to identify genetic variants that cause isolated and complex (syndromic) neurodevelopmental delay and intellectual disability. This test employs a whole genome platform aimed at detecting all major clinically relevant variant types from a single sample. It focuses on 108 genes associated with neurodevelopmental delay, specializing in X-linked and autosomal genes. This test is suitable for patients exhibiting symptoms of neurodevelopmental delay such as intellectual disability and/or autism spectrum disorder, with or without additional clinical presentations.
Special Instructions
Not provided.
Limitations
The test has limitations in coverage for several genes, including ARX, IQSEC2, KDM5C, SHANK3, SLC6A8, SYN1, and THOC2, meaning not all pathogenic variants may be detected. There is no determined false negative rate for repeat expansions in the AFF2 gene.
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
