NGS panels

Choose the panel that corresponds to the pathology you want to test your patient for.
TAT (turnaround time) for all panels: 5 weeks

Disorders of the Immune System
Primary Immunodeficiencies (PID)

Defects of adaptive immunity

Defects of innate immunity

Primary Antibody Deficiencies (PAD)
Common Variable Immunodeficiency (CVID)
Agamma-globulinemia
Hyper-IgM Syndrome (HIGM)
Combined Immunodeficiencies (CID)
Bare Lymphocyte Syndrome (BLS)
Severe Combined Immunodeficiency (SCID)
Severe Combined Immunodeficiency (T- B+)
Severe Combined Immunodeficiency (T-B-)
Syndromes with Combined Immunodeficiency
Dyskeratosis Congenita (DKC)
Hyper-IgE Syndrome (HIES)
Ataxia- Telangiectasia (AT)

Defects of innate immunity

Defects in Intrinsic & Innate Immunity
Viral Infections, Predisposition
Mendelian Susceptibility to Mycobacterial Disease (MSMD)
Fungal Infections, Predisposition
Invasive Bacterial Infections, Predisposition
Cystic Fibrosis (CF)
Phagocyte Defects, Congenital
Neutropenia, Syndromic
Neutropenia, Non-Syndromic
Chronic Granulomatous Disease (CGD)
Complement System Deficiencies
Atypical Haemolytic Uremic Syndrome (aHUS)
Disseminated Neisserial Infections
Systemic Lupus Erythematous (SLE)-like Syndrome
Pyogenic Infections, Recurrent
Hereditary Angioedema (HAE)
Immune Dysregulation Diseases (IDD)
Autoimmune Diseases (AD)
Systemic Lupus Erythematous (SLE)
Autoimmune Nephropathy (AN)
Autoimmune Lymphoproliferative Syndrome (ALPS)
Autoimmune Enteropathy
Autoimmune Polyendocrinopathy
Autoinflammatory Diseases (AID)
Behçet's Disease (BD)
Inflammatory Bowel Disease (IBD)
Autoinflammatory Diseases with Recurrent Fever
Aicardi-Goutières Syndrome (AGS)
Hemophagocytic Lymphohistiocytosis (HLH)
HLH with Epstein Barr Virus Susceptibility
Disorders of the Immune System

Other studies

Familial studies: Study requisition form
Genetic variants report without sequencing: Study requisition form
Single-gene sequencing: Study requisition form
MLPA: Study requisition form
Exomes

Exome sequencing is a powerful tool for diagnosing genetically inherited diseases that massively and simultaneously studies the protein-coding regions of our genes.

Exome: Study requisition form

1.- Sequencing + FASTQ. Deliverables: raw data (fastq files). TAT: 2 weeks.

2.- Sequencing + FASTQ + variant annotation. Deliverables: raw data (fastq files) and full list of annotated variants per patient. TAT: 3 weeks.

3.- Sequencing + FASTQ + variant annotation + interpretation. Advanced clinical interpretation of the subset of genes related to disorders of the immune system. Deliverables: raw data (fastq files), full list of annotated variants per patient and clinical report for the findings in the panel related to disorders of the immune system (458 genes). TAT: 5 weeks.