IriSight™️ Prenatal Analysis
Test Description
Test Code – RPG001
IriSightTM Prenatal Analysis is a diagnostic test designed to identify genetic variants that correlate with clinical symptoms manifested in a fetus or a pregnancy, or that lead to severe, early-onset genetic disorders.
IriSightTM Prenatal Analysis takes full advantage of the whole genome platform, providing a full, phenotypically-driven analysis of all relevant genes and variant types.
When to Order
Order this test when amniocentesis has been determined to be medically necessary due to ultrasound abnormalities.
Included Analyses
- Genome-wide sequence analysis including single nucleotide variants, deletions/insertions, and characterized intronic variants.
- Genome-wide structural variant analysis including: copy number variants, duplications/deletions, regions of homozygosity, uniparental disomy, mobile element insertions, inversions, and aneuploidy.
- Mitochondrial genome sequence with heteroplasmy and large deletion analysis
- Short tandem repeat (STR) analysis of four genes: AR, DMPK, FMR1, and FXN.
- Maternal cell contamination (MCC) is determined for quality control purposes.
- Parental inheritance will be identified for reported variants if available.
Optionally includes:
- Variants of Uncertain Significance (VUS) if correlated with the clinical symptoms of the fetus, the pregnancy, and/or the family history.
- ACMG secondary findings.
- Rapid fluorescent in situ hybridization (FISH) analysis of chromosomes: 13, 18, 21, X, and Y.
- Fetal back-up cultured cells
Test Performance
Short tandem repeats:
Due to the variable nature of repetitive sequences and sequence-specific differences in detection and repeat evaluation, orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.
CPT Codes
0335U, 0336U (xN)
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
Amniotic fluid
20ml
Cultured cells
2 confluent T-25 flasks
gDNA
5μg
Chorionic villus sampling
20-30mg cleaned and dissected sterile villi
Parental blood
5ml
Fetal/cord blood
10ml
Shipping
All specimens should be kept at room temperature. Please refer to the specimen collection kits for detailed instructions.
Turnaround Time
A report will be issued within 15 days from receipt of required samples. If elected, a preliminary report based on FISH will be issued within 3-5 days for aneuploidies of 13, 18, 21, X and Y.
