IriSight™️ for Pregnancy Loss

Test Description

Test Code – RPG100

IriSightTM for Pregnancy Loss is a diagnostic test designed to identify genetic variants that may result in pregnancy loss or severe ultrasound anomalies.

When to Order

Order this test when genetic analysis on a pregnancy loss has been determined to be medically necessary.  Scenarios in which this may apply include, but are not limited to:

  • Second or third trimester unexplained pregnancy losses.
  • Fetuses with ultrasound anomalies or other abnormal screening.
  • Patients with two or more pregnancy losses.
  • Patients with recurrent molar pregnancy.
  • Patients with a previously affected pregnancy or child with a suspected genetic condition.
  • Patients with a family or pregnancy history indicative of genetic disease.

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 analysis 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 (for trios only).
  • ACMG secondary findings.

Test Performance

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

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

81415, 81416 (xN), 81229, 81265

Optional – 81425, 81426 (xN), 81228, 81265

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

Fill 10

Products of Conception

Fresh tissue only

Tissue biopsy

Skin, muscle, lung, liver, pancreas or spleen preferred

Variantyx DNA

Fetal gDNA

5μg

Variantyx Blood

Parental blood (preferred)

5ml

Group 35

Cultured cells

2 confluent T-25 flasks

Note

The fetal sample should be placed in the collection cup in the provided Variantyx kit. If a kit is not available, place the specimen in a sterile container and add 50-80ml of sterile buffered saline solution (PBS/DPBS). Samples should be collected and sent to Variantyx the same day via overnight delivery. If this is not possible, refrigerate the sample until it can be shipped. Do not freeze the sample. At this time, formalin fixed and paraffin embedded specimens are not accepted.

Turn Around Time 

A report will be issued within 17-24 days from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

Learn More