IriSight® CNV Analysis

RPG002

IriSight® CNV Analysis is a diagnostic test designed to identify chromosomal abnormalities that correlate with clinical symptoms manifested in a fetus or a pregnancy, that may result in pregnancy loss or that cause severe, early-onset genetic disorders.

Test Description
When to Order
Included Analyses
Turnaround Time
Sample Types
CPT Codes
Methods and Limitations

Test Description

IriSight® CNV Analysis is a comprehensive test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This test focuses on analysis of chromosomal abnormalities.

IriSight® CNV Analysis provides a single clinical report that replaces chromosomal microarray (CMA) and multiplex ligation dependent probe amplification (MLPA) testing of the entire genome.

When to Order

For prenatal analysis:

Order this test when amniocentesis or CVS has been determined to be medically necessary due to ultrasound abnormalities and a chromosomal abnormality is suspected.
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 structural variant analysis including: copy number variants (CNVs), duplications/deletions, inversions, unbalanced translocations, regions of homozygosity (ROH), possible uniparental disomy (UPD), and aneuploidy.
Maternal cell contamination (MCC).

Optionally includes:

For prenatal analysis, 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).
Reflex to IriSight® Comprehensive Analysis – Prenatal.

For pregnancy loss, 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).
Reflex to IriSight® Comprehensive Analysis – Prenatal.

Turnaround Time

A report will be issued within 8 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:

Amniotic fluid

20ml – Specimen requirements
Cultured cells

2 confluent T-25 flasks – Specimen requirements
Fetal gDNA

5μg – Specimen requirements
Chorionic villus sampling

20-30mg – Specimen requirements
Fetal/cord blood

10ml – Specimen requirements

For Pregnancy Loss:

Products of Conception

Fresh tissue only – Specimen requirements
Tissue biopsy

Skin, muscle, lung, liver, pancreas or spleen preferred – Specimen requirements

For Trios:

Parental blood

5ml – Specimen requirements

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

CPT Codes

81265, 81349, 88235

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

Structural variants:
96% clinical sensitivity