Blueprint Genetics introduces 6 new Reproductive Carrier Screening Tests with FMR1 repeat expansion

We’re excited to inform you that we have expanded our Reproductive Carrier Screening offering. The new tests listed below will include the FMR1 repeat expansion analysis:

• Comprehensive Reproductive Screen with FMR1 repeat expansion (CS0101)
• Comprehensive Reproductive Screen DUO with FMR1 repeat expansion (CS0102)
• Core Reproductive Screen with FMR1 repeat expansion (CS0103)
• Core Reproductive Screen DUO with FMR1 repeat expansion (CS0104)
• Ashkenazi Jewish Reproductive Screen with FMR1 repeat expansion (CS0105)
• Ashkenazi Jewish Reproductive Screen DUO with FMR1 repeat expansion (CS0106)

Blueprint Genetics reproductive tests

• Include up to 461 genes
• Both sequencing and deletion/duplication (copy number variant) analysis are performed
• Includes disease-associated non-coding and deep intronic variants (as reported in HGMD and ClinVar)
• Only variants classified as likely pathogenic and pathogenic based on a modified American College of Medical Genetics (ACMG)/American College of Obstetricians and Gynecologists (ACOG) classification scheme will be reported
• Are high-quality and give actionable results
• Results include personal review and interpretion by geneticists, leveraging extensive literature and existing variant databases (ClinVar, HGMD)
• Reproductive DUO reports combine the results of 2 tested individuals to provide reproductive risk assessment for a couple in1 report

To learn more about our Reproductive Carrier Screening tests, here

About Blueprint Genetics:

Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, we deliver high-quality genetic testing to the global clinical community across 14 medical specialties. By combining a state-of-the-art laboratory process, the latest sequencing technology, AI-empowered data-crunching tools and techniques, world-class professionals, and a holistic customer experience approach, we are bringing genetic knowledge to mainstream healthcare while providing answers that can guide targeted treatment and individualized care for patients. Blueprint Genetics is based in Helsinki and Marlborough, with a customer base spanning over 70 countries. For more information, visit www.blueprintgenetics.com

Further information

Solveig Sjöblom, Director, Product Management, solveig.sjoblom@blueprintgenetics.com