Biologists and laboratory technicians work in the Immunogenetics Section who carry out investigations both for the diagnosis of related HLA diseases (eg celiac disease, rheumatoid arthritis, ankylosing spondylitis, uveitis) and for the characterization of patients who are candidates for bone marrow transplantation, of their relatives and voluntary donors; the Structure is in fact a Regional Reference Center for bone marrow donors and, in addition to interfacing directly with the IBMDR Registry (Italian Bone Marrow Donor Registry), manages a bank of about 8,000 voluntary bone marrow donors and coordinates the activities of the centers donors present in the Region.
|Typing HLA I class LR (A*/B*/C*)||SSO/SSP|
|Typing HLA II Class LR (DRB1*/DQB1*/DQA1*)||SSO/SSP|
|Typing HLA I class HR (A*/B*/C*)||SBT/NGS|
|Typing HLA II class HR (DRB1*/DQB1*/DQA1*/DPB1*)||SBT/NGS|
|Molecular diagnosis of celiac disease susceptibility: DRB1*(LR), DQB1*/DQA* (HR)||SSO/SSP|
|Molecular diagnosis of susceptibility to narcolepsy: DRB1* (LR), DQA1* (LR eventualmente HR)||SSO|
|Molecular diagnosis of Behçet's disease: B* (LR)||SSO/SSP|
|Molecular Diagnosis of Ankylosing Spondylitis: B* (LR)||SSO/SSP|
|Molecular Diagnosis of Rheumatoid Arthritis: DRB1* (LR eventually HR)||SSO|
|Juvenile Rheumatoid Arthritis Diagnosis: B* (LR)||SSO/SSP|
|Molecular Diagnosis of Psoriatic Arthritis: DRB1* (LR), DQA1* (HR)||SSO|
|Molecular Diagnosis of Psoriasis: B*, C*, DRB1* (LR)||SSO/SSP|
|Molecular Diagnosis of Uveitis: B* (LR)||SSO/SSP|
|Molecular Diagnosis of Multiple Sclerosis: DRB1*, DQB1*, DQA1* (LR eventualmente HR)||SSO|
|Molecular Diagnosis of Type 1 Diabetes: DRB1* (LR), DQB1*/DQA* (HR)||SSO|
|Molecular diagnosis of susceptibility to hypersensitivity syndrome due to treatment with Abacavir||RDB|
LR = low resolution
Regional referral center for bone marrow donor typing
The UOC Laboratory of Medical Genetics is the Regional Reference Center for the typing of bone marrow donors and, in addition to performing the HLA typing for hematologies that require the immunogenetic characterization of the patient and potential donor, coordinates the activities of the other Regional Structures interfacing with the IBMDR (Italian Bone Marrow Donor Register).
For this activity it has obtained for many years the European Federation of Immunogenetics (EFI) Certification.