Biochemical and Genetic Diagnostics of Rare Diseases

The Laboratory of Immunology and Genetics of Rare Diseases carries out investigations into a number of rare diseases.

Familial Hemolytic Uremic Syndrome (HUS) and Thrombotic Thrombocytopenic Purpura (TTP)

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

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Membranoproliferative Glomerulonephritis (MPGN) and C3 Glomerulopathy (C3G)

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

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Steroid Resistant Nephrotic Syndrome (SNSR)

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

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Polycystic Kidney Desease

Tests carried out according to a contract with the Italian National Health Service (SSN):
- Searching for mutations in the PKD1 and PKD2 genes

Centro Aldo e Cele Daccò

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 

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