Sequencing Panels

Turnaround time (TAT): 5 weeks

Primary Immunodeficiencies (PID)
  • Primary Immunodeficiencies (PID) [359 genes]
Defects of adaptive immunity
    • Common Variable Immunodefi-ciency (CVID) [35 genes]
    • Agammaglobulinemia [10 genes]
    • Hyper-IgM Syndrome (HIGM) [8 genes]
    • Bare Lymphocyte Syndrome (BLS) [13 genes]
    • Severe Combined Immunodeficiency (T- B-) (SCID) [8 genes]
    • Dyskeratosis Congenita (DKC) [16 genes]
    • Hyper-IgE Syndrome (HIES) [21 genes]
    • Ataxia-Telangiectasia (AT) [1 gene]
    Defects of innate immunity
    • 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]
    • Neutropenia [33 genes]
    • Chronic Granulomatous Disease (CGD) [8 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)
  • Immune Dysregulation Diseases (IDD) panel [274 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 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]
    • HLH with Epstein Barr Virus Susceptibility [20 genes]
Global panel
  • Disorders of the Immune System Panel [513 genes]

Other services

Exome sequencing

Check all the exomes that we offer:

See all exomes
Variant segregation / Family studies

TAT (turnaround time): 2 weeks

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

Gene sequencing

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).

MLPA testing

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.