Hereditary Archives - Insights https://news.mayocliniclabs.com/category/neurology/hereditary/ Get the latest news and education from Mayo Clinic Laboratories Wed, 14 May 2025 13:53:46 +0000 en-US hourly 1 https://wordpress.org/?v=6.8.1 A journey to diagnosis: One patient’s story of resilience and hope https://news.mayocliniclabs.com/2025/05/05/a-journey-to-diagnosis-one-patients-story-of-resilience-and-hope/ https://news.mayocliniclabs.com/2025/05/05/a-journey-to-diagnosis-one-patients-story-of-resilience-and-hope/#respond Mon, 05 May 2025 13:00:00 +0000 https://news.mayocliniclabs.com/?p=116215 A journey to diagnosis: One patient’s story of resilience and hopeFor 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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]]> https://news.mayocliniclabs.com/2025/05/05/a-journey-to-diagnosis-one-patients-story-of-resilience-and-hope/feed/ 0 Unique Test Screens for Recently Identified Peripheral Neuropathy: Matthew Schultz, Ph.D., and Amy White, M.S., CGC https://news.mayocliniclabs.com/2024/09/24/unique-test-screens-for-recently-identified-peripheral-neuropathy-matthew-schultz-ph-d-and-amy-white-m-s-cgc/ https://news.mayocliniclabs.com/2024/09/24/unique-test-screens-for-recently-identified-peripheral-neuropathy-matthew-schultz-ph-d-and-amy-white-m-s-cgc/#respond Tue, 24 Sep 2024 13:00:00 +0000 https://news.mayocliniclabs.com/?p=112496 Unique Test Screens for Recently Identified Peripheral Neuropathy: Matthew Schultz, Ph.D., and Amy White, M.S., CGCMatthew 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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]]> https://news.mayocliniclabs.com/2024/09/24/unique-test-screens-for-recently-identified-peripheral-neuropathy-matthew-schultz-ph-d-and-amy-white-m-s-cgc/feed/ 0 A new comprehensive genetic panel redefines Parkinson’s disease diagnosis https://news.mayocliniclabs.com/2024/04/10/a-new-comprehensive-genetic-panel-redefines-parkinsons-disease-diagnosis/ https://news.mayocliniclabs.com/2024/04/10/a-new-comprehensive-genetic-panel-redefines-parkinsons-disease-diagnosis/#respond Wed, 10 Apr 2024 13:00:00 +0000 https://news.mayocliniclabs.com/?p=110104 A new comprehensive genetic panel redefines Parkinson’s disease diagnosisMayo 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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]]> https://news.mayocliniclabs.com/2024/04/10/a-new-comprehensive-genetic-panel-redefines-parkinsons-disease-diagnosis/feed/ 0 Panel pinpoints causes of genetic hearing loss: Nicole Boczek, Ph.D., and Melanie Meyer, M.S, CGC https://news.mayocliniclabs.com/2023/08/01/panel-pinpoints-causes-of-genetic-hearing-loss-nicole-boczek-ph-d-and-melanie-meyer-m-s-cgc/ https://news.mayocliniclabs.com/2023/08/01/panel-pinpoints-causes-of-genetic-hearing-loss-nicole-boczek-ph-d-and-melanie-meyer-m-s-cgc/#respond Tue, 01 Aug 2023 13:00:00 +0000 https://news.mayocliniclabs.com/?p=101920 Panel pinpoints causes of genetic hearing loss: Nicole Boczek, Ph.D., and Melanie Meyer, M.S, CGCIdentifying 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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]]> https://news.mayocliniclabs.com/2023/08/01/panel-pinpoints-causes-of-genetic-hearing-loss-nicole-boczek-ph-d-and-melanie-meyer-m-s-cgc/feed/ 0 Multigene panel provides efficient ataxia diagnosis: Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC https://news.mayocliniclabs.com/2023/06/27/multigene-panel-provides-efficient-ataxia-diagnosis-angela-pickart-m-s-cgc-and-emily-lauer-m-s-cgc/ https://news.mayocliniclabs.com/2023/06/27/multigene-panel-provides-efficient-ataxia-diagnosis-angela-pickart-m-s-cgc-and-emily-lauer-m-s-cgc/#respond Tue, 27 Jun 2023 13:00:00 +0000 https://news.mayocliniclabs.com/?p=101387 Multigene panel provides efficient ataxia diagnosis: Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGCAngela 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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]]> https://news.mayocliniclabs.com/2023/06/27/multigene-panel-provides-efficient-ataxia-diagnosis-angela-pickart-m-s-cgc-and-emily-lauer-m-s-cgc/feed/ 0 Test assesses all inherited Parkinson’s disease genes:  Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D. https://news.mayocliniclabs.com/2023/03/21/test-assesses-all-inherited-parkinsons-disease-genes-zhiyv-neal-niu-ph-d-and-rodolfo-savica-m-d-ph-d/ https://news.mayocliniclabs.com/2023/03/21/test-assesses-all-inherited-parkinsons-disease-genes-zhiyv-neal-niu-ph-d-and-rodolfo-savica-m-d-ph-d/#respond Tue, 21 Mar 2023 12:00:00 +0000 https://news.mayocliniclabs.com/?p=98207 Test assesses all inherited Parkinson’s disease genes:  Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D.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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]]> https://news.mayocliniclabs.com/2023/03/21/test-assesses-all-inherited-parkinsons-disease-genes-zhiyv-neal-niu-ph-d-and-rodolfo-savica-m-d-ph-d/feed/ 0 Neuromuscular gene panel provides comprehensive analysis: Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D. https://news.mayocliniclabs.com/2023/03/14/neuromuscular-gene-panel-provides-comprehensive-analysis-zhiyv-neal-niu-ph-d-and-christopher-klein-m-d/ https://news.mayocliniclabs.com/2023/03/14/neuromuscular-gene-panel-provides-comprehensive-analysis-zhiyv-neal-niu-ph-d-and-christopher-klein-m-d/#respond Tue, 14 Mar 2023 13:00:00 +0000 https://news.mayocliniclabs.com/?p=96869 Neuromuscular gene panel provides comprehensive analysis: Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D.Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D., explain how Mayo Clinic Laboratories' updated neuromuscular gene panel informs diagnosis and treatment. The phenotype-based panel covers the complete list of neuromuscular genes and their variants.

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]]> https://news.mayocliniclabs.com/2023/03/14/neuromuscular-gene-panel-provides-comprehensive-analysis-zhiyv-neal-niu-ph-d-and-christopher-klein-m-d/feed/ 0 Neuropathy and Neuromuscular Gene Panel Update https://news.mayocliniclabs.com/2023/03/06/neuropathy-and-neuromuscular-gene-panel-update/ https://news.mayocliniclabs.com/2023/03/06/neuropathy-and-neuromuscular-gene-panel-update/#respond Mon, 06 Mar 2023 11:00:00 +0000 https://news.mayocliniclabs.com/?p=97870 Neuropathy and Neuromuscular Gene Panel UpdateIn this month's "Hot Topic," Christopher Klein, M.D., and Zhiyv (Neal) Niu, Ph.D., discuss how Mayo Clinic’s neuropathy and neuromuscular gene panels have enhanced patient care.

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