IriSight® Prenatal Testing

All genetic tests are not equal. With our whole genome platform we see more. More variants, with greater resolution, all with one sample.

Bringing a whole genome platform to reproductive genetics

When a genetic diagnosis is suspected, three aspects of genetic testing are critical: time, accuracy and convenience. This is especially true when it comes to a suspected diagnosis during pregnancy or following a loss. At Variantyx, we use a whole genome sequencing (WGS) platform to do the work of multiple traditional tests. As a result, we’re able to provide you with comprehensive diagnostic information for fetal anomalies, other abnormalities identified during pregnancy or pregnancy loss. All with a single test.

Whole genome testing reveals more in every test

Genetic disorders are caused by a wide variety of DNA changes. Comprehensive detection of all major clinically relevant variant types requires the right technology. Which is why we use PCR-free whole genome sequencing (WGS) of amniotic fluid, CVS and POC samples that generates uniform coverage of >98% of the patient’s DNA. Compare that to PCR-based panel and exome technologies that remove and skew data, generating fragmented coverage of only 1-2% of the patient’s DNA. Pairing WGS with our Genomic Intelligence® proprietary analytical software provides the most comprehensive variant detection available.

Variants detected by our IriSight® test portfolio include:

Sequence variants

Including SNVs, indels, intronic and regulatory variants

Structural variants

Including CNVs (duplications, deletions), inversions and MEIs

Repeat expansions

Short tandem repeat expansions

Mitochondrial variants

Including small sequence changes with heteroplasmy and deletions

Rapid fluorescent in situ hybridization (FISH) analysis of chromosomes 13, 18, 21, X and Y is optionally available (for certain tests).

More variants are revealed with greater resolution

Our whole genome platform has a detection range from 1bp to whole chromosomal events. As a result, with a single test, our testing identifies a wide range of variants that are individually missed by NIPT, chromosomal microarray, panel and exome tests. Phenotype-driven analysis ensures that only pathogenic, likely pathogenic and clinically relevant VOUS are reported.

Explore two representative example cases.

Bartsocas-Papas syndrome diagnosis

Variantyx testing identified a 318bp, single exon deletion in RIPK4 previously missed by a carrier screen panel and microarray tests. The diagnosis explained multiple anomalies noted on a routine anatomy scan including cleft lip and palate, micrognathia, distal arthrogryposis and ambiguous genitalia.

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Kabuki syndrome diagnosis

Variantyx testing identified a de novo, heterozygous, pathogenic single nucleotide deletion in the KMT2D gene of a male fetus presenting with hypoplastic left heart. The variant was previously missed by karyotype and microarray tests as well as a 30 gene NIPS panel.

Download Case Study