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Heritable Disorders of Connective Tissue: Clinical Considerations for Genetic Testing

June 17, 2021

In this educational webinar, we will review commonly encountered presentations that raise concern for a possible diagnosis of a heritable disorder of connective tissue. Case examples will be presented to highlight genetic testing options and considerations.

From Research to Practice: A Review of Our Latest Findings in Cardiovascular Genetics

June 16, 2021

In this educational webinar, we present recent work in genetic cardiomyopathies, including new gene discoveries, which may provide patients with an answer for their diagnosis, better guide management strategies and define risks for family members.

Nature’s Building Blocks: Decoding disease

June 23, 2021

We are proud to share 'Decoding disease', a film presented by ICBA as part of the Nature's Building Blocks series that explores the transformative role biotechnology is playing in solving humankind’s most complex problems. This film was produced for us by BBC StoryWorks.

How to Solve Challenging Cases, Part IV

May 06, 2021

In this educational webinar, we present recent challenging cases and describes the team’s approach to resolving these. Through these cases, we demonstrate the clinical importance of high-resolution CNV analysis, the need for custom solutions to improve the sensitivity of difficult-to-sequence regions, and the value of covering clinically relevant noncoding variants.

Tackling Uncertainty Around a VUS

April 01, 2021

In our annual VUS webinar, we will review how variants are classified and provide further guidance on what providers can do to advance reclassification. Case examples, recent publications, and current guidelines around VUS will be discussed as well.

Navigating Genetic Diagnostics for Hereditary Hearing Loss

March 10, 2021

In this educational webinar, we will review molecular causes of hearing loss and discuss genetic testing considerations. We will also share our experience at Blueprint Genetics with diagnostic panel testing for individuals with these conditions.

Challenges in confirming a diagnosis in skeletal dysplasia

March 15, 2021

Interview Given the considerable phenotypic overlap among the over 450 skeletal dysplasias and growth disorders, establishing the precise diagnosis can be a challenge. We looked at over 500 cases from 3 commonly ordered panels in this disease group and recognized key elements to consider that contribute to establishing a molecular diagnosis.

Resolving Diagnostic Challenges in Skeletal Dysplasia – A Clinical Overview

January 28, 2021

In this educational webinar, led by Dr Melita Irving, we will see how the combination of clinical and radiographic characterization with genetic testing creates a high diagnostic yield for patients with skeletal dysplasia. Case examples will be presented to review clinical considerations. Emerging opportunities in therapeutics targets will also be discussed.

In Focus: Complex Genetic Regions in Clinical Diagnostics

January 14, 2021

In this educational webinar, Clinical Development Manager Dr Johanna Sistonen will review the latest advancements in analyzing difficult-to-sequence regions. We will provide insight into our own troubleshooting strategies for challenging cases and our approach to customized sequencing and bioinformatic solutions.

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