MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Case Study
Clinical presentation
A 10-year-old female, with a similarly affected maternal male sibling, presented with chronic symptoms including:
- Global developmental delay
- Fatigue and headaches, making a full day of school attendance impossible
- Feeding intolerance, GI dysmotility, chronic constipation
- Seizures controlled by medication
- Chronic kidney and lung disease
- Hypotonia, joint hypermobility
Previous genetic testing
Testing was performed with negative results:
- Whole exome sequencing, reanalysis
Genomic Unity® Testing
was ordered because of its ability to identify all major variant types in a single test.
Genomic Unity® Testing
Variantyx Genomic Unity® testing identified a heterozygous, pathogenic expansion in the DIP2B gene.
Long-read sequencing confirmed the expansion, further characterizing the size as >500 repeats.
Diagnosis: FRA12A intellectual disability
Uniform data from long-read WGS makes it possible to clearly size the DIP2B allele (partial sequences are shown).
The Variantyx Difference
Why was Genomic Unity® testing able to identify the previously missed DIP2B expansion?
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Repeat expansions can not be detected by standard genetic tests, including exomes.
Variantyx genome analysis detects all major variant types in a single test including small sequence changes, mitochondrial variants, structural variants, and repeat expansions.
It easily detected the expanded DIP2B allele while simultaneously ruling out a mitochondrial variant originally suspected by the clinician due to the multisystemic symptoms shared with the maternal sibling.
Variantyx tests that would have identified this variant
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