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Success Stories

Genetic Event for Juvenile Parkinson

Identifying a unique novel genetic event for juvenile Parkinson

With their current platform, they achieve a diagnostic yield of approximately 50%, and for the remaining undiagnosed cases, they choose...
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Lessons learned from the Iowa Undiagnosed Disease Centre

Lessons learned from the Iowa Undiagnosed Disease Centre – Is it worth going the extra mile? 

At the Iowa Undiagnosed Diseases Program (UDP), clinicians and researchers are taking bold steps to reduce undiagnosed cases....
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Normal Retina and Retinal Achromatopsia

Confirming Achromatopsia Diagnosis with Geneyx Analysis

One complex case they encountered was a female of Ethiopian descent that was diagnosed with achromatopsia. To confirm the clinical...
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Detecting Uniparental disomy (UPD) with Geneyx Analysis

Detecting Uniparental disomy (UPD) with Geneyx Analysis

UPD occurs at a frequency of 1 in 2000 individuals worldwide (1). The most well-known conditions of UPD include Prader-Willi...
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Breast Cancer study using Geneyx Analysis

Towards Personalised Medicine for Breast Cancer in the Caribbean – A Pilot Study 

Dr. Weldon’s Caribbean Breast Cancer Whole Genome Pilot Study aims to identify unique genetic markers for Caribbean women that will...
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Congenital Hypotonia

Identifying multi-nucleotide variants associated with congenital hypotonia and global developmental delay

WGS identified a likely pathogenic, de novo variant in POLR2A, which has a strong association with the phenotype displayed by...
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L'ospedale Bambino Gesù (Foto Omniroma)

Increasing the accuracy and decreasing the time required for  clinical genetic analysis

In 2017, The genetic team at the largest pediatric hospital in Europe, Prof Antonio Novelli and his team of geneticists...
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Colon Cancer

Identifying novel  mutations responsible for colon  cancer predisposition

Prof Revital Kariv, M.D., and her team diagnose and treat patients with colon cancer. In many cases, they identify families...
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Applying Geneyx for high-throughput diagnostic settings

Implementation of Geneyx Analysis allowed customized gene panels with automatic reporting capabilities to easily accommodate for their large sample workflows....
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