Tests carried out according to a contract with the Italian National Health Service (SSN):
- Quantification of ADAMTS13 activity
- Searching for anti-ADAMTS13 inhibitors
- Quantification of C3-C4 in serum
- Quantification of complement Factor H in serum/plasma
- Screening of the following genes: CFH, MCP, C3, CFB, CFI, THBD, DGKE, ADAMS13 genes
Other tests that are performed include:
- Searching for anti-Factor H antibodies
- Quantification of plasma SC5b-9
- Searching for genomic deletions-rearrangements in CFH and CFH related genes 1-5
Tests carried out according to a contract with the Italian Health Service (SSN):
- Quantification of C3-C4 in serum
- Quantification of complement Factor H in serum/plasma
- Screening of the following genes: CFH, MCP, C3, CFB, CFI, THBD, DGKE genes
Other tests that are performed include:
- Searching for Factor H antibodies
- Quantification of SC5b-9 in plasma
- Searching for genomic deletions-rearrangements in CFH and CFH-related genes 1-5
Tests carried out according to a contract with the Italian National Health Service (SSN)
Sequencing of the following genes: ACTN4, ADCK4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, DGKE, EMP2, GLA, INF2, LAMB2, LMX1B, MYH9, MYO1E, NPHS1, NPHS2, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WDR73, WT1; APOL1: rs73885319, rs60910145, rs71785313
Tests carried out according to a contract with the Italian National Health Service (SSN):
- Searching for mutations in the PKD1 and PKD2 genes
Elena Bresin, MD
Clinical Research Center for RareDiseases Aldo e Cele Daccò, Mario Negri Institute for Pharmacological Research IRCCS
Via G.B. Camozzi, 3 - 24020 Ranica(BG) Italy
phone 0039 354535304;
Fax 0039 35 4535392
E-mail:raredis@marionegri.it
Intercheck web: web application aimed at health professionals to support the proper prescription of drugs in the elderly.
Information service for pregnant and nursing mothers on the appropriate use of medicines.
Information service for health professionals and patients on treatment plans and rare diseases.
Information service for health professionals and patients on kidney diseases and transplants.
Information services aimed at health professionals and the general public on the correct use of drugs, side effects and interactions in the elderly.
