GuideThis guide gives patients and their families information about Whole Exome Sequencing (WES). WES is a genetic test that looks at the genetic information contained in all of our 20,000 genes (and their multiple exons) in one single test.
Case report
This case report describes a young adult who presented as an infant with feeding difficulties, growth retardation, recurrent infections, dysmorphic features and multiple congenital anomalies including bilateral coloboma and bilateral choanal atresia.
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.
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.
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.
Case report
This case report describes a 60-year-old male with spinal muscular atrophy type III diagnosed at the age of 27 years based on electromyoneurography (ENMG) and muscle biopsy findings.
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