MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Lightning Case Study
Clinical presentation
A 14-month-old female with a history of intrauterine growth restriction and postnatal growth deficiency presented with the following symptoms:
- Profound global developmental delay
- Complex craniofacial anomalies including cleft lip and palate, hypertelorism, microtia
- Club foot, bilateral foot contractures
- Left hip dislocation
- Ostium secundum atrial septal defect
- Hearing loss
- Anterior segment dysgenesis
Previous genetic testing
Born at full term, the patient spent 6 weeks in the NICU. Rapid whole genome trio testing with another lab was performed in the first 2 weeks of her NICU stay, with negative results:
- Rapid whole genome sequencing
Genomic Unity® Testing
was ordered because it delivers the most comprehensive genomic insights, supporting the highest standard of patient care.
Results and interpretation
Variantyx Genomic Unity® testing identified mosaic trisomy 14. The mosaicism was estimated at 33%.
Mosaic trisomy 14 is associated with a multisystemic disorder that demonstrates a broad phenotypic spectrum. The clinical presentation depends on the level of mosaicism, which can vary across different tissue types.
Diagnosis: Trisomy 14
Uniform data from WGS clearly identifies a third chromosome 14 in a subset of cells.
The Variantyx Difference
Why was Genomic Unity® testing able to identify the mosaic aneuploidy missed by genome testing through another lab?
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Standard genome sequencing can not reliably detect the presence of an extra chromosome when only a small fraction of the cells carry it.
Variantyx genome analysis has a detection range from 1 bp to whole chromosomal events – even at low levels of mosaicism. -
The weak data signal provided by low-level mosaicism is often removed by algorithms designed to smooth out data variations.
Variantyx genome sequencing is paired with our Genomic Intelligence® analytical software which has been optimized to detect challenging variants like this one.If Genomic Unity® Lightning Genome Analysis had been ordered from the start, the patient would have been diagnosed in her first week of life. She was fortunate to receive genome sequencing a second time through Variantyx at 14 months of age. Most patients would have been stuck with the negative result provided by the other lab.
Variantyx tests that would have identified this variant
Genomic Unity® 2.0 | Genomic Unity® Whole Genome Analysis | Genomic Unity® Lightning Genome Analysis | Genomic Unity® Lightning 2.0 Genome Analysis – NICU | Genomic Unity® Lightning 2.0 Genome Analysis – Standard | Genomic Unity® Exome Plus Analysis | Genomic Unity® Exome Analysis | Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis | Genomic Unity® Genome-Wide CNV and FMR1 Analysis
Want similar results for your patients?
Connect with a Clinical Specialist to find out how easy it is to bring the power of whole genome sequencing into your practice.
