MISSED BY OTHERS, DETECTED BY US
IriSight^® Case Study

Single exon deletion explains multiple congenital anomalies

Clinical presentation

A routine anatomy scan of a young primigravida revealed multiple anomalies in a pregnancy with reported consanguinity, including:

Multiple tests were performed with negative results including:

was ordered because of its ability to identify all major variant types in a single test.

Variantyx IriSight® testing identified an inherited, homozygous, likely pathogenic 318 bp deletion spanning RIPK4 exon 6.

The deletion likely results in termination of the protein prior to the conserved ankyrin repeat domain.

Diagnosis: Bartsocas-Papas syndrome

Uniform data from WGS clearly shows the 318 bp deletion.

Why was this single exon deletion detected by IriSight® testing, and not detected by other tests?

The RIPK4 gene is not included in the carrier screening test that was performed, nor is it included in similar tests offered by other providers.
Variantyx genome analysis does not exclude any gene.
The size of the single exon deletion (318 bp) is below the limit of detection of the SNP microarray performed (50kb), as well as similar tests offered by other providers – including exome tests.
Variantyx genome analysis has a detection range from 1 bp to whole chromosomal events.
The deletion breakpoints are intronic, making the event undetectable by most available technologies – including panel and exome tests.
Variantyx genome analysis includes intronic regions, enabling breakpoint detection regardless of location.

Connect with a Clinical Specialist to find out how easy it is to bring the power of whole genome sequencing into your practice.