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.

Magnabosco, V. (2025). Development of a customized genetic test for parathyroid disorders.

Development of a customized genetic test for parathyroid disorders

MAGNABOSCO, VALENTINA
2025-01-01

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
2024/2025
Biotecnologie medico-chirurgiche e medicina traslazionale
37.
Settore BIOS-13/A - Istologia ed embriologia umana
English
Tesi di dottorato
Magnabosco, V. (2025). Development of a customized genetic test for parathyroid disorders.
File in questo prodotto:
File Dimensione Formato  
Ph_D_Valentina_Magnabosco (1).pdf

non disponibili

Licenza: Copyright degli autori
Dimensione 1.62 MB
Formato Adobe PDF
1.62 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/425790
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact