Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis
Use
Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis is designed to identify chromosomal abnormalities that correlate with the patient’s clinical symptoms. The test is comprehensive and employs a whole genome platform to detect major clinically relevant variant types from a single sample. It provides insights into chromosomal abnormalities, making it suitable for cases with multiple congenital anomalies, global developmental delays, intellectual disability, autism spectrum disorders, and suspected chromosomal imbalances.
Special Instructions
Not provided.
Limitations
Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis uses a PCR-free whole genome sequencing (WGS) platform. Although the clinical sensitivity for detecting structural variants is 96%, there might be limitations in detecting very low-frequency variants or alterations outside the regions covered by the analysis. Performance may vary based on sample quality and integrity.
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
Collection Instructions
Please see specimen requirements for details.
