COMPREHENSIVE DETECTION, BETTER INFORMED DECISIONS
IriSight® Case Study
Clinical presentation
A multigravida underwent an anatomy scan at 14 weeks gestation. The findings were concerning for arthrogryposis, including:
- Bilateral fixed positioning of the hands and feet
- Minimal movement of knee joints
- No movement of elbow joints observed
Previous genetic testing
Testing was performed with low risk for aneuploidies of 13, 18, 21, X, and Y:
- cfDNA screening
IriSight® Testing
was ordered because of its ability to identify all major variant types in a single test.
Results and interpretation
Variantyx IriSight® testing identified a de novo, heterozygous, likely pathogenic, c.1123G>A variant in the MYH3 gene.
Testing also identified a maternally inherited, heterozygous, pathogenic 31.49 kb deletion encompassing the F11 gene.
Diagnosis: MYH3-related arthrogryposis, Factor XI deficiency
Uniform data from WGS clearly shows both the MYH3 SNV (left) and the deletion that encompasses the entire F11 gene.
The Variantyx Difference
Why was IriSight® testing an effective choice for comprehensive detection, enabling better informed decisions?
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Variantyx genome analysis detects all major variant types in a single test including small sequence changes, mitochondrial variants, repeat expansions, and structural variants.
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In a single test, Variantyx genome analysis detected both a small sequence change in the MYH3 gene that provided a diagnosis consistent with the ultrasound findings and a deletion of the F11 gene that will impact the execution of postnatal surgeries required to address the observed joint contractures.
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