IriSight® Case Study
Overview
Patient:
39 year-old multigravida, 15 weeks gestation
Clinical presentation:
Elective testing
Testing strategy:
Variantyx whole genome testing
Key finding:
Homoplasmic single nucleotide variant in the MT-ATP6 gene
Clinical outcome:
Diagnosis established and reproductive planning enabled
Why IriSight® was the right choice
The patient presented for elective testing with specific interest in determining whether the fetus carried a previously identified mitochondrial variant. Found to be heteroplasmic (>10%) for the variant herself, Variantyx had first identified the variant when the patient’s older child was tested for symptoms including brain imaging abnormality, feeding difficulties, progressive hypotonia and developmental regression. The older child, identified to be homoplasmic for the variant, died at 6 months of age.
IriSight® was selected as the initial test because it delivers the most comprehensive genomic insights from the start:
- Reducing time to diagnosis
- Avoiding unnecessary testing
- Supporting the highest standard of patient care
Diagnostic finding: Primary mitochondrial disease
Variantyx IriSight® testing identified a homoplasmic, maternally inherited, pathogenic p.Leu156Arg variant in the MT-ATP6 gene.
Uniform data from WGS clearly shows the homoplasmic mitochondrial variant.
Impact on clinical care
Enabled maximally informative reproductive planning.
Variant spotlight
Detection challenges
Mitochondrial genome analysis, for sequence changes and deletions, is usually not included in tests offered by other vendors.
Why IriSight®
- Sequences both nuclear and mitochondrial genomes
- Detects large mitochondrial deletions, in addition to mitochondrial SNVs and indels with heteroplasmy (≥5%)
Additional similar cases
Genomic Unity® – Heteroplasmic mitochondrial deletion explains multiorgan dysfunction