MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Case Study
Clinical presentation
A 19-year-old male presented with a history, shared with his brother, of slowly progressive myopathy with notable humeral and peroneal weakness:
- 7 years old – Myopathy first evident
- 10 years old – Muscle biopsy identified severe dystrophic changes suggestive of dystrophinopathy
- 15 years old – Wheelchair dependent
Previous genetic testing
Multiple tests were performed with negative results including:
- SNP microarray
- Limb girdle panel
- 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 deep intronic, hemizygous, likely pathogenic variant in the DMD gene that causes retention of an intronic segment.
His symptomatic brother shares the same variant.
Diagnosis: Duchenne muscular dystrophy
Uniform data from WGS (top) clearly shows the deep intronic variant. The variant is undetectable by exome testing (bottom) due to coverage gaps.
The Variantyx Difference
Why was this deep intronic variant detected by Genomic Unity® testing, and not detected by other tests?
-
Single nucleotide changes are below the limit of detection (50-100kb) of SNP microarray tests.
Variantyx genome analysis has a detection range from 1bp to whole chromosomal events. -
The variant is deep within an intron, making it undetectable by most available technologies – including panel and exome tests.
Variantyx genome analysis includes intronic regions, enabling variant detection regardless of location.
Variantyx tests that would have identified this variant
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