IriSight® Comprehensive Analysis – Prenatal
Use
IriSight® Comprehensive Analysis – Prenatal is a diagnostic test designed to identify genetic variants that correlate with clinical symptoms manifested in a fetus or a pregnancy, or that cause severe, early-onset genetic disorders. It uses a whole genome platform to detect all major clinically relevant variant types from a single sample and is trio-based, analyzing fetal DNA jointly with parental DNA.
Special Instructions
Not provided.
Limitations
The test uses PCR-free WGS with high sensitivity and specificity for SNVs and structural variants. Sensitivity for CNVs is clinically validated at 96%. Heteroplasmy is reported for mitochondrial variants, but large deletions have undetermined false negative rates. Significant limitations include possible reporting on a case-by-case basis for STRs and unknown rates for large mitochondrial deletions.
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
11-14 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.