Resources - Blueprint Genetics

Blueprint Genetics / Resources

Education & Resources

Subscribe to our newsletter

Subscribe

Rare Journeys: Mom, Patient, Advocate

February 28, 2022

Interview To mark Rare Disease Day 2022, we are honored to share the story of Yolaine Dupont, a rare mother, a rare patient, and patient navigator and advocate. Watch our interview to learn more.

How to Solve Challenging WES Cases: Atypical Positive Results

February 17, 2022

During this webinar, Senior Geneticist Kirsty Wells, PhD, and Genetic Services Consultant Rachel Goldberg, MS, CGC, will discuss recent challenging WES cases with atypical positive results and the Blueprint Genetics team’s tailored approach to tackling these. Through these examples, we explore both the clinician and interpretation team’s perspective, as well as demonstrate the power of high-quality testing that has the ability to capture the full spectrum of disease-causing genetic variation.

Congenital Heart Disease: Key Considerations for Genetic Counseling

February 09, 2022

During this CEU webinar, Hannah Ison MSc, CGC, Allison Schartman MS, CGC, and Benjamin Helm MS, CGC will provide an overview of the recently published Congenital Heart Disease (CHD) genetic counseling practice resource as to familiarize healthcare providers with the most current counseling considerations for this patient population.

Beyond the Nucleus: Combining Panel-based NGS Testing with mtDNA Analysis

January 07, 2022

Although mtDNA disorders are relatively common, testing for these disorders can be challenging. In this webinar, we will review the role of the mitochondrial variants in inherited disease, describe current capabilities in NGS testing for evaluating mtDNA variants, and present our experience including mtDNA analysis as part of clinical genetic testing and demonstrate how this approach increases diagnostic yield of NGS-based panel testing.

APOE in Focus: Considerations and Guidelines for Genetic Testing

November 24, 2021

Variants in APOE are known to play a role in both abnormalities of lipid metabolism and neurologic disease. During this webinar, we will review APOE’s role in coronary artery disease risk and Alzheimer’s disease risk, and address questions and review current guidelines for testing APOE.

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.

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.

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.

Subscribe to our newsletter

Subscribe