MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Case Study
Clinical presentation
An 8-year-old female with a long history of recurrent hypoglycemia and failure to thrive presented with the following symptoms:
- Global developmental delay, motor delay
- Short stature
- Very low energy with easy fatigability
- Laryngeal cleft, chokes on solid foods
- Chronic abdominal pain, constipation
- Amblyopia
Previous genetic testing
Multiple tests were performed with negative results including:
- Chromosomal microarray
- Whole exome sequencing, reanalysis
- Whole exome sequencing by 2nd provider
- Mitochondrial genome sequencing and deletion analysis
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 de novo, pathogenic, 8.71 kb deletion that encompasses exons 1 and 2 of the TLK2 gene.
The deletion is expected to result in loss of protein function.
Diagnosis: Intellectual developmental disorder 57
Uniform data from WGS clearly shows the heterozygous deletion spanning two exons of the TLK2 gene.
The Variantyx Difference
Why was Genomic Unity® testing able to identify this two exon deletion that was missed by other tests?
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The size of the two exon deletion (8.71 kb) is below the limit of detection of most genetic tests – including CMA and exome tests.
Variantyx genome analysis has a detection range from 1bp to whole chromosomal events, easily detecting this deletion. -
One breakpoint occurs prior to the first non-coding exon while the second occurs in intron 2, adding to the complexity of detection.
Variantyx genome analysis includes all intronic and intergenic regions, enabling breakpoint detection regardless of location.
Variantyx tests that would have identified this variant
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