Neurogenetics 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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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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A new comprehensive genetic panel redefines Parkinson’s disease diagnosis

Nicole Holman — Wed, 10 Apr 2024 13:00:00 +0000

Mayo Clinic Laboratories introduces the Inherited Parkinson’s Disease Gene Panel (Mayo ID: PARDP), a collaborative breakthrough poised to transform Parkinson’s disease diagnosis and treatment. Led by Rodolfo Savica, M.D., Ph.D., and Zhiyv (Neal) Niu, Ph.D., this comprehensive test offers unparalleled insights into Parkinson’s genetics, unveiling novel gene associations and enhancing diagnostic precision through next-generation sequencing. The panel’s capabilities include detecting subtle genetic variations and identifying familial patterns, promising personalized medicine advancements.

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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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Diagnostic Exploratory Testing

MCL Education — Wed, 13 Dec 2023 13:00:00 +0000

In this month's "Hot Topic," Nicole Boczek, Ph.D., assistant professor and laboratory director in the Department of Laboratory Medicine and Pathology, and Sarah Barnett, M.S., CGC, discuss diagnostic exploratory testing, explain why it’s important to the field of many specialty practice areas, and help determine which testing may be the most valuable for a given patient.

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Familial Variant Targeted Testing (FMTT)

MCL Education — Mon, 04 Dec 2023 13:00:00 +0000

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

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Panel pinpoints causes of genetic hearing loss: Nicole Boczek, Ph.D., and Melanie Meyer, M.S, CGC

Samantha Rossi — Tue, 01 Aug 2023 13:00:00 +0000

Identifying a precise genetic cause of hearing loss impacts clinical management. Nicole Boczek, Ph.D., and Melanie Meyer, M.S., CGC, explain how Mayo Clinic Laboratories' updated panel yields comprehensive results for optimal patient care.

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Multigene panel provides efficient ataxia diagnosis: Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC

Barbara J. Toman — Tue, 27 Jun 2023 13:00:00 +0000

Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC, explain how Mayo Clinic Laboratories' multigene panel helps identify the cause of hereditary ataxia. Precise diagnosis of this complex movement disorder helps guide patient treatment and family screening.

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Test assesses all inherited Parkinson’s disease genes: Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D.

Barbara J. Toman — Tue, 21 Mar 2023 12:00:00 +0000

Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D., explain why Mayo Clinic Laboratories' gene panel is the most comprehensive test available for inherited Parkinson's disease. The new panel covers all mutations known to cause the condition — or increase the risk of developing it.

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