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Genetic Counselor Awareness Day—Ask our GCs!

November 01, 2021

To mark the annual Genetic Counselor Awareness Day, we invite you to join a Q&A session where genetic counselors from the Blueprint Genetics team can answer any questions you may have about the industry and different opportunities available for genetic counselors. They will also share their own experiences and insights working in this field.

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

October 26, 2021

Publication In this study, patient reports were retrospectively reviewed to assess the diagnostic yield, reported variant characteristics, impact of copy number variation, and performance in prenatal diagnostics of panel tests for variants in genes associated with skeletal dysplasia and growth disorders.

Resonate: A Program to Improve Access to Genetic Testing and Genetic Counseling for Eligible Individuals with Auditory Neuropathy

September 22, 2021

In this webinar, we will provide an overview of the Resonate program, including the Comprehensive Hearing Loss and Deafness Panel, optional genetic counseling services available to participants, and the informed consent and data sharing policies.

Unraveling Spinal Muscular Atrophy: Expanding Phenotypes and Treatment

August 24, 2021

In this educational webinar, we will review the clinical and molecular diagnosis of Spinal Muscular Atrophy, identify molecular diagnostic challenges and solutions, and examine the current and emerging therapies for SMA.

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.

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