Description |
"The Medical Genetics Unit in Siena is a referral center in Italy for ATS diagnosis and it takes care of an Italian Registry for Alport disease. Presently this registry includes more than 1,000 families for a total of 3,239 individuals. Associated with the registry there is the Alport biobank that collects 3,239 DNA samples, 45 lymphoblastoid cell lines, 259 blood samples and 213 plasma
samples. The Alport biobank is inserted in the “Telethon Network of Genetic Biobanks” (TNGB, http://www.biobanknetwork.org, Telethon grant GTB12001). The laboratory routinely performs prenatal diagnosis for ATS and thus has a long experience in amniocytes isolation and culture techniques. The laboratory perform also molecular diagnosis of ATS with the support of NGS technology,allowing the simultaneous analysis of COL4A3-COL4A4-COL4A5.The Nephrology, Dialysis and Transplant Unit is a large service for diagnosis, follow-up and treatment of adult's kidney diseases (more than 1000 patients followed); reference center for ultrasound and ecocolor-doppler diagnosis for renal diseases especially for renal transplantation (2000 performances / year); reference center for multidisciplinary aferetic therapy (400 procedures / year); clinical nephrology center with section for diagnosis and treatent of immune mediated nephropaties, hemodialysis and peritonal dialysis center; renal transplantation (approximately 60 transplants / year; total transplantation of about 900): cadaveric and living donor, AB0-incompatible, DSA-positive, cross-over transplantation).
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