IriSight™️ CNV Analysis
Test Description
Test Code – RPG002
IriSight™ CNV Analysis is a whole genome sequence-based test designed to identify chromosomal abnormalities that correlate with clinical symptoms manifested in a fetus or a pregnancy, that may result in pregnancy loss or that cause severe, early-onset genetic disorders. The genetic changes identified in the test include copy number variants, duplications/deletions, regions of homozygosity, possible uniparental disomy, inversions, and aneuploidy.
IriSight™ CNV Analysis is a comparable test to a chromosomal microarray (CMA). CMA has been recommended over karyotyping by both the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) for use in prenatal diagnosis when a fetal structural abnormality has been detected by ultrasound1. Independent studies published after the guidelines suggest that CMA should be preferred over karyotyping for prenatal diagnosis regardless of clinical indication2.
When to Order
For prenatal analysis, consider ordering IriSight™ CNV Analysis when amniocentesis has been determined to be medically necessary due to ultrasound abnormalities and you would typically order a CMA. You also have the option to reflex up to IriSight™ Prenatal Analysis if the analysis is non-diagnostic. This test may also be ordered and reflexed for pregnancies without a medical indication, but Variants of Uncertain Significance (VUS) will not be reported.
For pregnancy loss, consider ordering IriSight™ CNV Analysis when genetic analysis on a pregnancy loss has been determined to be medically necessary and you would typically order a CMA. You also have the option to reflex up to IriSight™ for Pregnancy Loss if the analysis is non-diagnostic.
Included Analyses
- Genome-wide structural variant analysis including: copy number variants (CNVs), duplications/deletions, inversions, unbalanced translocations, regions of homozygosity (ROH), possible uniparental disomy (UPD), and aneuploidy.
- Maternal cell contamination (MCC).
For prenatal analysis, optionally includes:
- Rapid fluorescent in situ hybridization (FISH) analysis of chromosomes: 13, 18, 21, X, and Y.
- Variants of Uncertain Significance (VUS), if correlated with the clinical symptoms of the fetus, the pregnancy, and/or the family history (for trios only).
- Reflex to IriSight™ Prenatal Analysis.
For pregnancy loss, optionally includes:
- Variants of Uncertain Significance (VUS), if correlated with the clinical symptoms of the fetus, the pregnancy, and/or the family history (for trios only).
- Reflex to IriSight™ for Pregnancy Loss.
Test Performance
CPT Codes
81349, 81265, 88235
The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Accepted Specimens
For Prenatal Analysis
Amniotic fluid
20ml
Cultured cells
2 confluent T-25 flasks
Fetal gDNA
5μg
Chorionic villus sampling
20-30mg
Fetal/cord blood
10ml
For Pregnancy Loss
Products of Conception
Fresh tissue only
Tissue biopsy
Skin, muscle, lung, liver, pancreas or spleen preferred
For Trios
Parental blood
5ml
Shipping
All specimens should be kept at room temperature. Please refer to the specimen collection kits for detailed instructions.
Turnaround Time
Turnaround time depends on the sample type submitted (see the table that follows). All turnaround times refer to calendar days starting from the time that required samples are received.
| Amniotic fluid | Chorionic villus sampling | Products of conception | |
| IriSight™ CNV Analysis report | 8 days | 11 days | 14 days |
| IriSight™ Prenatal Analysis or IriSight™ for Pregnancy Loss report (when auto reflex is ordered) | +3 days | +3 days | +7 days |
References
