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.
2025
Inglese
KLINGER, FRANCESCA GIOIA
Università degli Studi di Roma "Tor Vergata"
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14242/214485
Il codice NBN di questa tesi è URN:NBN:IT:UNIROMA2-214485