Summary Ectodermal dysplasias (ED) are a group of genetic conditions that can affect hair, teeth, nails, and sweat glands, sometimes leading to serious health issues like overheating and infections. To better understand the genetic causes of ED, we reviewed results from 250 patients who underwent next-generation sequencing (NGS) panel testing. These panels…
Summary Data informing the yield of next-generation sequencing-based multi-gene panel testing for individuals with cystic kidney disease is increasing. To add to this knowledge within the scientific community, we performed a retrospective review of 1,235 reports for patients with suspected cystic kidney disease receiving Blueprint Genetics Cystic Kidney Disease Panel…
Summary Inherited retinal dystrophies (IRDs) are genetically and phenotypically heterogeneous, and early molecular diagnosis is critical for management and access to emerging therapies. We retrospectively analyzed 1,612 pediatric patients (age 0–12) tested with a multigene panel. Analysis included all protein-coding exons, clinically relevant noncoding variants, the mitochondrial genome, and copy…
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