IriSight™️ Prenatal Analysis

Test Code – RPG001

Test Description

IrisightTM Prenatal Analysis is a clinical 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.

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 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:

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 102

Amniotic fluid

20ml

Group 35

Cultured cells

2 confluent T-25 flasks

Variantyx DNA

gDNA

5μg

Variantyx Blood

Parental blood

5ml

Turn Around Time 

A report will be issued within 20-30 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.

Contact Us

Please contact customer service to request a kit.

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