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Whole Exome Sequencing (WES) guide for patients and families

Apr 12, 2018

Guide This 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: The Power of NGS-based CNV Analysis within an Exome

Apr 04, 2019

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: A Diagnostic Odyssey Solved

Apr 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.

Case Report: Enhanced Diagnostic Performance for PKD1

Apr 04, 2019

Case report This case report describes a 32-year-old female who was diagnosed with bilateral renal cysts at 16 years of age.

6 things you might not know about Whole Exome Sequencing

Mar 05, 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.

Autosomal dominant inheritance – it’s all about the family

Feb 28, 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.

SMN1/SMN2 and spinal muscular atrophy case report

Feb 28, 2019

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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