Parathyroid disorders, encompassing hyperparathyroidism, hypoparathyroidism, and parathyroid cancer, pose significant challenges in diagnosis and management. This paper explores the development of a genetic test aimed at enhancing the diagnosis and evaluation of these disorders. Beginning with an overview of parathyroid gland anatomy, physiology, and pathophysiology, the document delves into the genetic underpinnings of parathyroid disorders. The process of developing a genetic panel involves market analysis, panel design, gene specification, validation, and preparation for market release. Activities such as market research, panel design, and validation are described in detail. Additionally, the paper discusses the clinical applications and results of personalized parathyroid disorders testing and outlines future directions for development in this field.
Development of a customized genetic test for parathyroid disorders
MAGNABOSCO, VALENTINA
2025
Abstract
Parathyroid disorders, encompassing hyperparathyroidism, hypoparathyroidism, and parathyroid cancer, pose significant challenges in diagnosis and management. This paper explores the development of a genetic test aimed at enhancing the diagnosis and evaluation of these disorders. Beginning with an overview of parathyroid gland anatomy, physiology, and pathophysiology, the document delves into the genetic underpinnings of parathyroid disorders. The process of developing a genetic panel involves market analysis, panel design, gene specification, validation, and preparation for market release. Activities such as market research, panel design, and validation are described in detail. Additionally, the paper discusses the clinical applications and results of personalized parathyroid disorders testing and outlines future directions for development in this field.File | Dimensione | Formato | |
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https://hdl.handle.net/20.500.14242/214485
URN:NBN:IT:UNIROMA2-214485