Genetics Archives - Insights

A journey to diagnosis: One patient’s story of resilience and hope

jgilligan1 — Mon, 05 May 2025 13:00:00 +0000

For many, the path to a correct diagnosis can be long and filled with uncertainty. This story highlights the resilience and determination of one patient who navigated a complex medical journey to find answers and hope at Mayo Clinic. The patient asked to remain anonymous for personal privacy reasons.

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Cytology Specimen Utilization: A Proven Approach to Genetic Sequencing

MCL Education — Wed, 09 Apr 2025 14:00:00 +0000

PACE / State of FL - Register now - May 21, 2025: - This webinar will explore the role of cytology specimens in molecular genetic testing, emphasizing their effectiveness in identifying biomarkers critical for targeted therapies in patients with cancer. Advantages of cytology samples, challenges in specimen adequacy, and how advancements in next-generation sequencing (NGS) have led to improved utilization of cytology samples will be discussed. This discovery has led to enhancing diagnostic accuracy, reducing the need for repeat biopsies, and accelerating personalized cancer treatment, all of which will be highlighted during the webinar.

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Innovative SORD test provides clarity for two young patients: Justin Fugelsang and Zach Pedowitz

Chris Bahnsen — Mon, 13 Jan 2025 14:00:00 +0000

Justin Fugelsang and Zach Pedowitz have never met. Yet both young men were diagnosed with a rare form of Charcot-Marie-Tooth disease, called sorbitol dehydrogenase (SORD) deficiency, and both found clarity through Mayo Clinic Laboratories' innovative SORD testing. Their journeys inspire resilience, as Justin has channeled his emotions into guitar playing, and Zach has embraced educational leadership.

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Making Informed Decisions About Genetic Testing: Carrie Lahner, M.S., CGC, and April Studinski Jones, M.S., CGC

Jessie Fenske — Thu, 14 Nov 2024 14:00:00 +0000

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by genetic counselors Carrie Lahner, M.S., CGC, and April Studinski Jones, M.S., CGC, to discuss how family medical history can inform genetic testing strategies.

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Dr. Dong Chen and Dr. Sounak Gupta join Becker’s Healthcare Podcast to discuss molecular testing in cancer care

jgilligan1 — Tue, 29 Oct 2024 01:00:00 +0000

Dr. Dong Chen and Dr. Sounak Gupta joined the “Becker’s Healthcare Podcast” to discuss the molecular testing space and its important role in personalized cancer treatment. Dr. Chen and Dr. Gupta highlighted the importance of selecting the right molecular tests for patients, the impact of genetic testing on cancer diagnosis and treatment, and how Mayo Clinic Laboratories is helping physicians make informed decisions for the best patient outcomes.

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Optimizing Cancer Care: ASCO Guidelines for Germline Genetic Testing

MCL Education — Wed, 09 Oct 2024 12:00:00 +0000

PACE / State of FL- Presentation Recording Coming Soon
This webinar will delve into the latest ASCO guidelines for selection of germline genetic testing panels for cancer patients. Key topics include the importance of taking and recording a detailed family and personal history, selecting the appropriate genes for testing, and determining when and to whom germline testing should be offered. The session will also address the practical implications of the ASCO guidelines, such as balancing the potential benefits of broader gene panel testing with the risks associated with uncertain results. Additionally, participants will gain insights into the specific technical challenges associated with germline genetic testing in cancer care and risk management.

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Unique Test Screens for Recently Identified Peripheral Neuropathy: Matthew Schultz, Ph.D., and Amy White, M.S., CGC

Barbara J. Toman — Tue, 24 Sep 2024 13:00:00 +0000

Matthew J. Schultz, Ph.D., and Amy L. White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.

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Krabbe disease added to federal newborn screening panel

Chris Bahnsen — Wed, 18 Sep 2024 13:00:00 +0000

Thanks to advocacy work by a group of medical experts, including some from Mayo Clinic, the U.S. Department of Health and Human Services now recommends all states screen for infantile Krabbe disease to help save newborn lives.

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Sickle cell disease: How new technologies are transforming patient lives

MCL Education — Tue, 06 Aug 2024 12:00:00 +0000

In this “Future Direction of Laboratory Medicine” webinar, Maggie DiGuardo, M.D., and Justin Juskewitch, M.D., Ph.D., will review the current knowledge regarding sickle cell disease from its genetic cause to the myriads of effects it can have for affected individuals.

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Targeted panel boosts accuracy of hereditary pancreatitis testing: Linda Hasadsri, M.D., Ph.D., and Huong T. Cabral, M.S., C.G.C.

Barbara J. Toman — Tue, 26 Mar 2024 13:00:00 +0000

Linda Hasadsri, M.D., Ph.D., and Huong T. Cabral, M.S., C.G.C., explain how Mayo Clinic Laboratories' targeted test panel facilitates accurate diagnosis of hereditary pancreatitis, which heightens the risk for pancreatic cancer. Test results can guide cancer monitoring for patients and their families.

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