MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Case Study
Clinical presentation
A 19-year-old female presented with a history of short stature and failure to thrive throughout childhood, with multiorgan symptoms present since at least 14 years of age, including:
- Hearing loss
- Retinitis pigmentosa
- Kidney failure, resulting in renal transplant
- Type I diabetes
- Hypertrichosis
Previous genetic testing
Multiple tests were performed with negative results including:
- Retinal dystrophy panel
- Mitochondrial genome sequencing (x2)
- Mitochondrial genome 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 heteroplasmic (20%) pathogenic mitochondrial deletion ~2.3 kb in size.
The deletion spans the MT-ND5, MT-TH, MT-TL2, and MT-TS2 genes.
Diagnosis: Mitochondrial DNA deletion syndrome
Uniform data from WGS clearly shows the mitochondrial deletion.
The Variantyx Difference
Why was this heteroplasmic mitochondrial deletion detected by Genomic Unity® testing, and not detected by other tests?
-
Mitochondrial genes are not typically included in retinal dystrophy panels.
Variantyx genome analysis does not exclude any gene, including mitochondrial genes. -
The relatively low level of heteroplasmy (20%) and relatively small size of the deletion (~2.3 kb) fall near the lower end of the detection limits of the mitochondrial deletion test ordered.
Variantyx genome analysis includes >2,000X coverage of the mitochondrial genome, with detection of heteroplasmy ≥5%.
Variantyx tests that would have identified this variant
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