Genomic Unity® Genome-Wide CNV and FMR1 Analysis
Use
Genomic Unity® Genome-Wide CNV and FMR1 Analysis is designed to identify genetic variants responsible for developmental delays, intellectual disability, and autism spectrum disorders. It provides a comprehensive diagnostic report that consolidates results from a range of previous testing methodologies such as chromosomal microarray, MLPA, and PCR/southern blot for FMR1 repeat expansions. This test is crucial for providing an in-depth understanding of genetic factors contributing to such disorders, thereby assisting clinicians in patient management.
Special Instructions
Not provided.
Limitations
Genomic Unity® Genome-Wide CNV and FMR1 Analysis has specific sensitivity for structural variants at 96%. However, the test does not have a determined false negative rate for repeat expansions in the FMR1 gene, indicating potential areas where test accuracy requires further validation. It is also crucial to note that while comprehensive, the test may not detect all genetic variants, and additional or complementary testing may be needed based on clinical judgment.
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