Featured - 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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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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Optimizing Cancer Care: ASCO Guidelines for Germline Genetic Testing

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

PACE/State of FL - The latest ASCO guidelines for selection of germline genetic testing panels for cancer patients.

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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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Test identifies Lynch syndrome for targeted cancer monitoring: Wei Shen, Ph.D., and Rhianna Urban, M.S., CGC

Barbara J. Toman — Tue, 19 Mar 2024 13:00:00 +0000

Wei Shen, Ph.D., and Rhianna Urban, M.S., CGC, explain how Mayo Clinic Laboratories' gene panel establishes a diagnosis of Lynch syndrome, which heightens the risk for several cancers. Test results can guide targeted cancer surveillance for patients and their families.

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A comprehensive test menu explores genome for druggable targets to treat gastrointestinal cancers

Chris Bahnsen — Wed, 13 Mar 2024 13:00:00 +0000

Since 1992, cases of colorectal cancer have been on a slow decline, yet 52,550 people died from it in 2023. At Mayo Clinic, a cutting-edge menu of both germline (inherited genetic alterations) and somatic (tumors due to non-inherited genetic alterations) testing are two critical tools helping to improve targeted treatments for colorectal and other common gastrointestinal cancers.

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Personal journey shapes unique perspective: Linda Hasadsri, M.D., Ph.D.

Robin Huiras-Carlson — Mon, 11 Mar 2024 13:00:00 +0000

Dr. Linda Hasadsri’s firsthand encounter with the genetic tests she’s helped develop has provided rare insight into testing quality and implications, enhancing their ability to advocate for the value of testing and infusing their work with deep empathy.

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Pushing the envelope on personalized medicine

Robin Huiras-Carlson — Wed, 21 Feb 2024 14:00:00 +0000

Recognizing the powerful role genes can play in diagnosing illness and guiding treatment, the Division of Laboratory Genetics and Genomics at Mayo Clinic spearheaded a testing expansion, implementing and upgrading more than 60 advanced sequencing and biochemical assays in 2023 and planning for even more this year.

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Comprehensive testing helps diagnose and manage rare genetic disorder: Lauri Sieben

Cory Pedersen — Mon, 05 Feb 2024 14:00:00 +0000

Multiple doctors and multiple examinations could not figure out why Lauri Sieben had spent much of her life “never feeling quite right” physically. Fortunately for Lauri, that changed after her daughter Christy began working as a genetic counselor in Mayo Clinic’s Molecular Technologies Laboratory. After seeing similarities between the patient testing she was performing for the lab and the physical symptoms being experienced by her mom, Christy took a leading role in getting Lauri to undergo molecular and biochemical testing at Mayo Clinic. The results of that testing not only provided much-needed answers, but a promising path forward for Lauri.

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