MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Case Study
Clinical presentation
A 4-year-old male presented with a complex medical history:
- Mitochondrial complex I deficiency
- Global developmental delay
- Spasticity
- Congenital hypotonia
- Persistent left superior vena cava
- Mild oropharyngeal dysphagia
Previous genetic testing
Multiple tests were performed with negative or non-diagnostic results including:
- Chromosomal microarray
- SMN1/2 testing
- Cerebral palsy panel
- Mitochondrial sequence & del/dup analysis
- Whole exome sequencing
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 likely pathogenic, paternally inherited SNV and a pathogenic, maternally inherited indel, both within the RNU7-1 gene.
Both variants have been experimentally demonstrated to alter U7 snRNP function.
Diagnosis: Aicardi-Goutieres syndrome 9
Uniform data from WGS clearly shows the inherited SNV (left) and indel (right).
The Variantyx Difference
Why were these compound heterozygous sequence variants detected by Genomic Unity® testing, and not detected by other tests?
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The variants fall within an sncRNA gene. Other tests focus predominately, if not exclusively, on protein-coding genes.
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While exomes have the potential to include sncRNA genes, a survey of commercial exome probe sets shows that only 1 in a sample of 7 targets RNU7-1.
Variantyx genome analysis provides truly comprehensive mitochondrial and nuclear gene coverage, including analysis of sncRNAs. Ordering Variantyx genome testing as a first line test would have shortened the diagnostic odyssey while significantly saving healthcare costs by eliminating multiple step-wise tests.
Variantyx tests that would have identified these variants
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