Immunology

• Primary Immunodeficiencies (PID) [359 genes]

Defects of adaptive immunity

• Primary Antibody Deficiencies (PAD) [51 genes]
• Common Variable Immunodefi-ciency (CVID) [35 genes]
• Agammaglobulinemia [10 genes]
• Hyper-IgM Syndrome (HIGM) [8 genes]
• Combined Immunodefi-ciencies (CID) [47 genes]
• Bare Lymphocyte Syndrome (BLS) [13 genes]
• Severe Combined Immunodefi-ciency (SCID) [20 genes]
• Severe Combined Immunodeficiency (T- B+) (SCID) [12 genes]
• Severe Combined Immunodeficiency (T- B-) (SCID) [8 genes]
• Syndromes with Combined Immunodeficiency [81 genes]
• Dyskeratosis Congenita (DKC) [16 genes]
• Hyper-IgE Syndrome (HIES) [21 genes]
• Ataxia-Telangiectasia (AT) [1 gene]

Defects of innate immunity

• Defects in Intrinsic & Innate Immunity [138 genes]
• Natural killer cell deficiency [74 genes]
• Viral Infections, Predisposition [38 genes]
• Mendelian Susceptibility to Mycobac-terial Disease (MSMD) [26 genes]
• Fungal Infections, Predisposition [16 genes]
• Invasive Bacterial Infections, Predisposition [8 genes]
• Cystic Fibrosis (CF) [1 gene]
• Phagocyte Defects, Congenital [44 genes]
• Neutropenia [33 genes]
• Chronic Granulomatous Disease (CGD) [8 genes]
• Complement System Deficiencies [41 genes]
• Atypical hemolytic-uremic syndrome (aHUS) [17 genes]
• Disseminated Neisserial Infections [9 genes]
• Systemic Lupus Erythe-matous (SLE)-like Syndrome [8 genes]
• Pyogenic Infections, Recurrent [6 genes]
• Hereditary Angioedema (HAE) [5 genes]

• Immune Dysregulation Diseases (IDD) panel [274 genes]
• Autoimmune diseases extended panel [168 genes]
• Autoimmune diseases basic panel [50 genes]
• Genetic lupus-like syndrome [77 genes]
• Autoimmune Lymphoproliferative Syndrome (ALPS) [26 genes]
• Autoimmune Enteropathy (AE) [23 genes]
• Autoimmune Polyendocrinopathy (AP) [13 genes]
• Autoinflammatory diseases extended panel [157 genes]
• Autoinflammatory diseases basic panel [49 genes]
• Behçet’s Disease (BD) [28 genes]
• Inflammatory Bowel Disease (IBD) [45 genes]
• Autoinflammatory Diseases with Recurrent Fever [20 genes]
• CANDLE syndrome [7 genes]
• Aicardi-Goutières Syndrome (AGS) [7 genes]
• Hemophagocytic Lymphohistiocytosis (HLH) [46 genes]
• HLH with Epstein Barr Virus Susceptibility [20 genes]

• Disorders of the Immune System Panel [513 genes]

TAT (turnaround time): 2 weeks

Sanger sequencing studies on carriers of variants that have been previously described in the family.

TAT (turnaround time): 2 weeks

Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).

Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. A wide variety of commercial kits are available to test individual genes, gene panels related to specific pathologies, or large chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.