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4 common myths in genetic testing

June 22, 2020

Interview Has the incredible growth in genetics left us with some misconceptions about testing? Laboratory Director Jennifer Schleit listed some of the common myths in genetic testing.

What to consider when choosing sponsored testing for your patient with an inherited retinal disease

December 04, 2019

My Retina Tracker What to consider when choosing sponsored testing for your patient with an inherited retinal disease? This article aims to provide insights about why different quality aspects matter, including the importance of covering difficult-to-sequence regions, as well as having explicit information regarding patient data privacy.

Improved cardiology panels

November 28, 2019

In October 2019, a total of 86 new genes were added to 16 updated cardiology panels. The update takes into account the latest findings in the field and customer requests in order to meet the needs of providers, and increase the diagnostic potential of panels.

Copy number variant (CNV) detection at Blueprint Genetics

September 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

April 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

April 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

April 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.

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