IriSight® CNV Analysis
Use
IriSight® CNV Analysis is designed to identify chromosomal abnormalities that correlate with clinical symptoms in a fetus or pregnancy, potentially resulting in pregnancy loss or causing severe, early-onset genetic disorders. It provides a comprehensive approach by replacing both chromosomal microarray (CMA) and multiplex ligation-dependent probe amplification (MLPA) testing of the entire genome. Its genome-wide platform enables the detection of all major clinically relevant variant types from a single sample, focusing on chromosomal abnormalities.
Special Instructions
Not provided.
Limitations
The test has a 96% clinical sensitivity for detecting structural variants. The optional FISH analysis can rapidly assess chromosomes 13, 18, 21, X, and Y with preliminary reporting available in 3–5 days for aneuploidies related to these chromosomes. However, Variants of Uncertain Significance (VUS) are included only if they show correlation with clinical symptoms of the fetus, pregnancy, or family history. The test does not report VUS for non-medical prenatal indications.
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
8 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
20ml
Minimum Volume
Not provided
Storage Instructions
All specimens should be kept at room temperature.