**Author Listing - Lead/ Submitting Author (we will be communicating with this individual): Name, Institution, City and State where the work was done. Co-authors will be added in a separate section.**
Mario Nuvolone
Department of Molecular Medicine, University of Pavia, Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy

**Main Body of the Abstract**
Molecular diagnostics is essential in the diagnostic process of systemic amyloidosis.
We revised electronic records of molecular diagnostics for hereditary amyloidoses at the Pavia Referral Center for Systemic Amyloidosis between Jan-1998 and Dec-2023.
A total of 13497 molecular tests in 7021 different subjects covering 14 genes were performed. A median of 2 genes were analyzed per subject (range: 1-9; IQR: 1-2).
The total number of performed tests, evaluated subjects and tested genes showed a progressive increase over time, with a first increment between 2004-2005 related to the discovery of an endemic focus of AApoAI caused by the p.Leu99Pro variant in Northern Italy, and a second increment after 2020, due to increased referral of patients with suspected AL or ATTR cardiac amyloidosis. Also, the proportion of presymptomatic tests for ATTRv has grown over the last few years reflecting increasing availability of effective therapies.
In total, we identified 79 different variants (including 9 previously unreported variants) in 1035 different individuals, with TTR and APOA1 accounting for 50.7% and 41.1% of cases, respectively. The number of different variants of clinical significance identified varied from 49 for TTR to 2 for GSN. One or few variants accounted for the majority of positive tests for TTR/APOA1/APOC2/LYZ, reflecting the presence of geographical clusters of hereditary amyloidoses caused by specific variants across the country.
Molecular diagnostics panels for hereditary amyloidoses need to continuously adapt to increasing demand and growing complexity, reflecting improved disease awareness, expanding number of pathogenic genes, potentially overlapping clinical phenotypes and geographic peculiarities.



**Author Listing - Lead/ Submitting Author (we will be communicating with this individual): Name, Institution, City and State where the work was done. Co-authors will be added in a separate section.**
Mario Nuvolone
_Department of Molecular Medicine, University of Pavia, Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy_

**Main Body of the Abstract**
Molecular diagnostics is essential in the diagnostic process of systemic amyloidosis.
We revised electronic records of molecular diagnostics for hereditary amyloidoses at the Pavia Referral Center for Systemic Amyloidosis between Jan-1998 and Dec-2023.
A total of 13497 molecular tests in 7021 different subjects covering 14 genes were performed. A median of 2 genes were analyzed per subject (range: 1-9; IQR: 1-2).
The total number of performed tests, evaluated subjects and tested genes showed a progressive increase over time, with a first increment between 2004-2005 related to the discovery of an endemic focus of AApoAI caused by the p.Leu99Pro variant in Northern Italy, and a second increment after 2020, due to increased referral of patients with suspected AL or ATTR cardiac amyloidosis. Also, the proportion of presymptomatic tests for ATTRv has grown over the last few years reflecting increasing availability of effective therapies.
In total, we identified 79 different variants (including 9 previously unreported variants) in 1035 different individuals, with _TTR_ and _APOA1_ accounting for 50.7% and 41.1% of cases, respectively. The number of different variants of clinical significance identified varied from 49 for _TTR_ to 2 for _GSN_. One or few variants accounted for the majority of positive tests for _TTR_/_APOA1_/_APOC2_/_LYZ_, reflecting the presence of geographical clusters of hereditary amyloidoses caused by specific variants across the country.
Molecular diagnostics panels for hereditary amyloidoses need to continuously adapt to increasing demand and growing complexity, reflecting improved disease awareness, expanding number of pathogenic genes, potentially overlapping clinical phenotypes and geographic peculiarities.



The Pavia Amyloidosis Research and Treatment Center’s 25-year experience in molecular diagnostics for hereditary amyloidoses PC26 (#510)

We invite you to attend the XIX International Symposium on Amyloidosis to be held in Rochester, MN.

This symposium is organized as a hybrid meeting (with the focus on in-person) held from Sunday, May 26 through Thursday, May 30, 2024.

Together with the ISA Board and members of Mayo Clinic, a very attractive scientific hybrid program is being planned. The program will cover a variety of types of systemic amyloidosis: ATTR (hereditary and wild-type), AL (light-chain), AA and less frequent forms. There will be key lectures, specific symposia including those company sponsored, oral presentations and poster sessions of accepted abstracts.

COURSE DESCRIPTION
This program will provide a comprehensive review of state-of-the-art education in systemic amyloidosis: basic science, pathophysiology, diagnosis, current and emerging treatments. Scientific presentations will include competitive oral and poster abstracts. The rapid evolution of scientific discovery and expanding treatment options has created tremendous interest in the field and this meeting will fill and important gap in educating scientists and clinicians.