GEN HEKİMİ

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İ

 

İMMÜNOLOJİ

Adenosine Deaminase Deficiency

Agammaglobulinemia, X-linked

APECED

Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A

Autoimmune Lymphoproliferative Syndrome Type IIA (ALPS IIA)

Autoimmune Lymphoproliferative Syndrome Type IIB (ALPS IIB)

Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome

Bloom Syndrome

Bruton type agammaglobulinemia

Cartilage-Hair Hypoplasia

Chronic Granulomatous Disease (CGD)

Cyclic Neutropenia

Hereditary Angioedema (HAE) Type I-II

Hereditary Angioedema (HAE) Type III

Hyper-IgD Syndrome

Hyper-IgE Syndrome (HIES)

Immunodeficiency Syndrome with Hyper-IgM

Invasive Pneumococcal Disease

IRAK4 Deficiency

Jobs Syndrome

Leukocyte Adhesion Deficiency Type 1

LIG4 Syndrome

Neonatal Onset Multisystem Inflammatory Disease

Netherton Syndrome

Neutropenia, X-linked

Neutrophil Immunodeficiency Syndrome

Omenn Syndrome

Purine Nucleoside Phosphorylase Deficiency

Reticular Dysgenesis

Severe Combined Immune Deficiency (SCID)

Severe Combined Immune Deficiency (SCID), ADA Type

Severe Combined Immune Deficiency (SCID), DCLRE1C Type

Severe Combined Immune Deficiency (SCID), IL7R Type

Severe Combined Immune Deficiency (SCID), JAK3 Type

Severe Combined Immune Deficiency (SCID), RAG Type

Severe Combined Immune Deficiency with Radiation Sensitivity

Severe Combined Immune Deficiency (XSCID), X-linked

Severe Congenital Neutropenia

Thrombocytopenia, X-linked

Wiskott-Aldrich syndrome

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İSKELET HASTALIKLARI

Acro-Renal-Ocular syndrome

Anauxetic Dysplasia

Basal cell nevus syndrome

Campomelic Dysplasia (CD)

Cartilage-Hair Hypoplasia

Cherubism

Chondrodysplasia Punctata (CDPX1)

Coffin-Lowry Syndrome (CLS)

Duane-Radial Ray syndrome

Gorlin Syndrome

Hereditary Multiple Exostoses (HME)

Holt-Oram syndrome

Hyperostosis Corticalis Generalisata, benign form of worth with Torus Palatinus

Hypophosphatemic Rickets, X-linked

Metaphyseal Dysplasia without Hypotrichosis

Multiple Epiphyseal Dysplasia (MED)

Nevoid basal cell carcinoma syndrome

Osteopetrosis Type 1, Autosomal Dominant

Osteoporosis-Pseudoglioma Syndrome

Pseudo-Vitamin D-Deficiency Rickets

Pseudoachondroplasia (PSACH)

Rickets, Hypophosphatemic, Autosomal Dominant

Rickets, Hypophosphatemic, Autosomal Recessive

Townes-Brocks Syndrome

Van Buchem Disease Type 2

Rhizomelic chondrodysplasia punctata (RCDP)

FGFR-Related Skeletal Dysplasias

Limb Abnormalities

BRANŞLARA GÖRE TEST SEÇİMİ

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*Genetik testler pahalı olabilen, zaman alan ve çok çeşitli testlerdir. Yanlış test seçimiyle çok sık  karşılaşılmaktadır. Hastanıza en uygun test seçimi için iletişime geçiniz.