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Diagnosis of rare genetic immune disease (panel - 458 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 26/12/2018

Health In Code. A Coruña
Health In Code. A Coruña
Marineda Bussines Center. Local 1A
15008 A CORUÑA
SPAIN
Director of laboratory : Dr Lorenzo MONSERRAT IGLESIAS
More information

Phone : 34 881 60 00 03
Additional Phone : -
Fax : 34 981167093
Website
Contact
email

Last update: December 2018

Responsible of diagnostic test

Dr Lorenzo MONSERRAT IGLESIAS

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (198)

22q11.2 deletion syndrome

Activated PI3K-delta syndrome

Aicardi-Goutières syndrome

Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Ataxia-telangiectasia

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Autoimmune lymphoproliferative syndrome with recurrent viral infections

Autoimmune polyendocrinopathy type 1

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Autosomal agammaglobulinemia

Autosomal dominant hyper-IgE syndrome

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal dominant severe congenital neutropenia

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

Autosomal systemic lupus erythematosus

Bacterial susceptibility due to TLR signaling pathway deficiency

CHARGE syndrome

Cartilage-hair hypoplasia

Cernunnos-XLF deficiency

Chronic granulomatous disease

Chronic mucocutaneous candidiasis

Chédiak-Higashi syndrome

Combined immunodeficiency due to CARMIL2 deficiency

Combined immunodeficiency due to CD27 deficiency

Combined immunodeficiency due to CD3gamma deficiency

Combined immunodeficiency due to CD70 deficiency

Combined immunodeficiency due to DOCK8 deficiency

Combined immunodeficiency due to GINS1 deficiency

Combined immunodeficiency due to IL21R deficiency

Combined immunodeficiency due to ITK deficiency

Combined immunodeficiency due to LRBA deficiency

Combined immunodeficiency due to MALT1 deficiency

Combined immunodeficiency due to Moesin deficiency

Combined immunodeficiency due to ORAI1 deficiency

Combined immunodeficiency due to OX40 deficiency

Combined immunodeficiency due to STIM1 deficiency

Combined immunodeficiency due to STK4 deficiency

Combined immunodeficiency due to TFRC deficiency

Combined immunodeficiency due to ZAP70 deficiency

Combined immunodeficiency due to partial RAG1 deficiency

Combined immunodeficiency with faciooculoskeletal anomalies

Combined immunodeficiency with granulomatosis

Combined immunodeficiency-enteropathy spectrum

Common variable immunodeficiency

Complement component 3 deficiency

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Constitutional mismatch repair deficiency syndrome

Cyclic neutropenia

DOCK2 deficiency

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

Dyskeratosis congenita

Epidermodysplasia verruciformis

FADD-related immunodeficiency

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Familial Mediterranean fever

Familial cold urticaria

Familial hemophagocytic lymphohistiocytosis

Familial isolated congenital asplenia

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Griscelli syndrome type 2

Hennekam syndrome

Hepatic veno-occlusive disease-immunodeficiency syndrome

Hereditary folate malabsorption

Hereditary neutrophilia

Hereditary pulmonary alveolar proteinosis

Hermansky-Pudlak syndrome due to AP-3 deficiency

Herpes simplex virus encephalitis

Hoyeraal-Hreidarsson syndrome

Hyper-IgM syndrome type 2

Hyper-IgM syndrome type 3

Hyper-IgM syndrome type 5

Hyperimmunoglobulinemia D with periodic fever

Hypohidrotic ectodermal dysplasia with immunodeficiency

IL21-related infantile inflammatory bowel disease

Idiopathic CD4 lymphocytopenia

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Immunodeficiency by defective expression of MHC class I

Immunodeficiency by defective expression of MHC class II

Immunodeficiency due to CD25 deficiency

Immunodeficiency due to MASP-2 deficiency

Immunodeficiency due to a classical component pathway complement deficiency

Immunodeficiency due to a late component of complement deficiency

Immunodeficiency due to ficolin3 deficiency

Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

Immunodeficiency with factor H anomaly

Immunodeficiency with factor I anomaly

Inflammatory bowel disease-recurrent sinopulmonary infections syndrome

Kostmann syndrome

Laron syndrome with immunodeficiency

Leukocyte adhesion deficiency type I

Leukocyte adhesion deficiency type II

Leukocyte adhesion deficiency type III

Majeed syndrome

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Monocytopenia with susceptibility to infections

Muckle-Wells syndrome

Multiple intestinal atresia

Myeloperoxidase deficiency

Neonatal inflammatory skin and bowel disease

Netherton syndrome

Neutrophil immunodeficiency syndrome

Nijmegen breakage syndrome

Osteopetrosis-hypogammaglobulinemia syndrome

PLCG2-associated antibody deficiency and immune dysregulation

Pancytopenia due to IKZF1 mutations

Papillon-Lefèvre syndrome

Poikiloderma with neutropenia

Predisposition to invasive fungal disease due to CARD9 deficiency

Primary CD59 deficiency

Primary immunodeficiency syndrome due to LAMTOR2 deficiency

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Properdin deficiency

Proteasome-associated autoinflammatory syndrome

Purine nucleoside phosphorylase deficiency

RAS-associated autoimmune leukoproliferative disease

RIDDLE syndrome

Recurrent Neisseria infections due to factor D deficiency

Recurrent infection due to specific granule deficiency

Reticular dysgenesis

Roifman syndrome

STAT3-related early-onset multisystem autoimmune disease

STING-associated vasculopathy with onset in infancy

Schimke immuno-osseous dysplasia

Severe combined immunodeficiency due to CARD11 deficiency

Severe combined immunodeficiency due to CORO1A deficiency

Severe combined immunodeficiency due to CTPS1 deficiency

Severe combined immunodeficiency due to DCLRE1C deficiency

Severe combined immunodeficiency due to DNA-PKcs deficiency

Severe combined immunodeficiency due to FOXN1 deficiency

Severe combined immunodeficiency due to IKK2 deficiency

Severe combined immunodeficiency due to LAT deficiency

Severe combined immunodeficiency due to LCK deficiency

Severe combined immunodeficiency due to adenosine deaminase deficiency

Severe combined immunodeficiency due to complete RAG1/2 deficiency

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Shwachman-Diamond syndrome

Singleton-Merten dysplasia

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Spondyloenchondrodysplasia

Sterile multifocal osteomyelitis with periostitis and pustulosis

Susceptibility to infection due to TYK2 deficiency

Susceptibility to localized juvenile periodontitis

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

Syndromic diarrhea

Syndromic multisystem autoimmune disease due to Itch deficiency

T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

T-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ severe combined immunodeficiency due to gamma chain deficiency

T-cell immunodeficiency with epidermodysplasia verruciformis

Transcobalamin deficiency

Tumor necrosis factor receptor 1 associated periodic syndrome

Vasculitis due to ADA2 deficiency

Wiskott-Aldrich syndrome

X-linked agammaglobulinemia

X-linked hyper-IgM syndrome

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

X-linked lymphoproliferative disease due to SH2D1A deficiency

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

X-linked severe congenital neutropenia

List of genes tested (including panels) (457)

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