IriSight™️ Comprehensive Analysis – Prenatal 

Test Description

Test Code – RPG001

IriSightTM 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 lead to severe, early-onset genetic disorders.

IriSightTM Comprehensive Analysis – Prenatal 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.
  • This test may also be ordered for pregnancies without a medical indication, but Variants of Uncertain Significance (VUS) will not be reported.

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
  • Repeat expansion analysis of the AFF2, AR, DMPK, FMR1, FOXL2, FXN, GLS, SOX3, PHOX2B and ZIC2 genes. (Learn more)
  •  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

 %
Sensitivity for SNVs
 %
Specificity for SNVs
 %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants

Repeats expansions:

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

Specimen Requirements

Cultured cells

2 confluent T-25 flasks

Specimen Requirements

gDNA

5μg

Specimen Requirements

Chorionic villus sampling

20-30mg

Specimen Requirements

Parental blood

5ml

Specimen Requirements

Fetal/cord blood

10ml

Specimen Requirements

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 all sample requirements. (16 days for CVS 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. 

Contact Us

Please contact customer service to request a kit.

Learn More