Insights

Case Report: A Diagnostic Odyssey Solved

04.04.2019

Case report This case report describes a 5-month-old male, with over a dozen different investigations without a diagnosis, who presented with hypotonia, neonatal hypoglycemia, a sacral vestigial tail, and reflux.
Insights

6 things you might not know about Whole Exome Sequencing

05.03.2019

Interview Selecting the appropriate panel for a patient can be difficult. “Not every patient fits into a neat phenotypic box or meets diagnostic criteria. WES removes the difficulty of trying to find the right panel for your patient as all protein-coding genes are covered in one single test", says senior geneticist Jennifer Schleit. There are many important factors to consider when choosing a whole exome test for your patient.
Insights

Autosomal dominant inheritance – it’s all about the family

28.02.2019

Rare Disease Day In autosomal dominant inheritance an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. Individuals with autosomal dominant diseases have a 50% risk of passing the mutant gene and therefore the disorder on to their offspring.