MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Case Study

Single exon deletion explains intellectual disability

Clinical presentation

A 10-year-old female with diagnosed autism spectrum disorder presented with the following symptoms:

  • Intellectual disability
  • Speech and language delay
  • Motor delay
  • Mild gait instability

Previous genetic testing

Testing was performed with negative results including:

  • Whole exome sequencing, multiple 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 de novo, heterozygous, pathogenic 2.95 kb deletion.

The deletion spans exon 2 of the TRIO gene.

Diagnosis: Intellectual disability disorder

IGV view of TRIO deletion

Uniform data from WGS clearly shows a heterozygous, 2.95 kb deletion encompassing exon 2 of the TRIO gene.

The Variantyx Difference

Why was this single exon deletion detected by Genomic Unity® testing, and not detected by prior testing?

  • The size of the single exon deletion (2.95 kb) is below the limit of detection of most genetic tests – including panel and exome tests.
    Variantyx genome analysis has a detection range from 1bp to whole chromosomal events, easily detecting this deletion.

  • Both deletion breakpoints occur in introns not covered by panel and exome testing, adding to the complexity of detection.
    Variantyx genome analysis includes intronic regions, enabling breakpoint detection regardless of location.

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