MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Case Study
Clinical presentation
A 41-year-old male with a history of developmental delay and progressive, recurrent encephalopathy presented with the following additional symptoms:
- Schizencephaly
- Psychosis and catanoia
- Gait dysfunction
- Hypotonia and poor motor coordination
- Auditory processing delay
- Cerebellar cognitive affective syndrome
- Psoriatic arthritis
Previous genetic testing
Multiple tests were performed with negative results including:
- Karyotype
- Whole genome sequencing
- Mitochondrial genome sequencing
Genomic Unity® Testing
was ordered because it delivers the most comprehensive genomic insights, supporting the highest standard of patient care.
Results and interpretation
Variantyx Genomic Unity® testing identified a de novo, heterozygous, pathogenic 8.52 kb deletion in the RFX3 gene.
Encompassing exon 3, the deletion is expected to result in loss of protein function.
Diagnosis: Complex neurodevelopmental disorder
Uniform data from both short-read WGS (top) and long-read WGS (bottom) clearly show the deletion, with long-read WGS providing precise sizing of 8,524 bp.
The Variantyx Difference
Why was this single exon deletion detected by Genomic Unity® testing, but missed by genome testing through another lab?
-
Most genetic tests – including standard genome sequencing – are unable to detect deletions smaller than 2 exons.
Variantyx genome analysis has a detection range from 1 bp to whole chromosomal events, easily detecting this single exon deletion. -
Both deletion breakpoints are intronic, adding to the complexity of detection.
Variantyx genome analysis includes intronic regions, enabling breakpoint detection regardless of location.
Variantyx tests that would have identified this variant
Genomic Unity® 2.0 | Genomic Unity® Whole Genome Analysis | Genomic Unity® Lightning Genome Analysis | Genomic Unity® Lightning 2.0 Genome Analysis – NICU | Genomic Unity® Lightning 2.0 Genome Analysis – Standard | Genomic Unity® Exome Plus Analysis | Genomic Unity® Exome Analysis | Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis | Genomic Unity® Genome-Wide CNV and FMR1 Analysis
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