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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.

Copy Number Variant (CNV) Detection at Blueprint Genetics

Sep 16, 2019

CNVs are becoming increasingly recognized as an important cause of many genetic diseases.

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.

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