IriSight® Comprehensive Analysis – Prenatal 

RPG001

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.

Test Description

IriSight® Comprehensive Analysis – Prenatal is a comprehensive test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. It is a trio-based test that analyzes fetal DNA jointly with parental DNA.

IriSight® Comprehensive Analysis – Prenatal provides a single, unified clinical report that replaces a battery of tests including: whole exome sequencing (WES), chromosomal microarray (CMA), multiplex ligation dependent probe amplification (MLPA), and single gene or targeted gene panel testing.

When to Order

For prenatal analysis:

  • Order this test when amniocentesis or CVS 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.

For pregnancy loss:

  • Order this test when genetic analysis on a pregnancy loss has been determined to be medically necessary.

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 (CNVs), duplications/deletions, regions of homozygosity (ROH), uniparental disomy (UPD), mobile element insertions, inversions, and aneuploidy.
  • Mitochondrial genome analysis including: single nucleotide variants with heteroplasmy (≥5%), large deletions.
  • Short tandem repeat (STR) analysis of the AFF2, AR, DMPK, FMR1, FOXL2, GLS, PHOX2B, SOX3, and ZIC2 genes. (Learn more).
  • Maternal cell contamination (MCC).

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).
  • ACMG secondary findings.

Turnaround Time

A report will be issued within 11 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.

Sample Types

For Prenatal Analysis:

For pregnancy loss:

For Trios:

All specimens should be kept at room temperature. Please refer to the specimen collection kits for detailed instructions.

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.

Methods and Limitations

IriSight® Comprehensive Analysis – Prenatal uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
>99.9% sensitivity
>99.9% specificity
>99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Mitochondrial variants:
Heteroplasmy is not reported for large deletions and duplications are not detected. The false negative rate for mitochondrial large deletions has not been determined.

Short tandem repeats:
Due to the variable nature of repetitive sequences and sequence specific differences in detection, repeat evaluation and orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.