Genomic Unity® Exome Analysis
Use
Genomic Unity® Exome Analysis is a diagnostic test designed to identify genetic variants that correlate with the patient’s phenotype. It provides a comprehensive analysis using a whole genome platform to detect all major clinically relevant variant types from a single sample. This test is significant for patients when clinical symptoms may be caused by a variety of genes, are suggestive of multiple conditions, or when a specific diagnostic test is not available. Additionally, it is useful for patients who have had previous non-diagnostic genetic testing.
Special Instructions
Not provided.
Limitations
The test includes analyses of exome-wide sequence variants like single nucleotide variants, deletions, insertions, and certain intronic and regulatory variants. Genome-wide structural variant analysis includes copy number variants, duplications, deletions, and other large rearrangements. However, the false negative rate for repeat expansions is currently undetermined, which implies limited sensitivity for detecting such variants in some cases.
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
4-6 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
Collection Instructions
Refer to blood specimen requirements.