Ağır Kombine İmmün Yetmezlik Paneli (19 Gen)
Test Bilgileri
Numune Alınma Şekli
WES/CES/PANEL Hasta Bilgilendirme ve Onam Formu doldurulmalıdır. İlgili forma https://www.ahenklab.com.tr/Content/document/form/gn-f25-ahenk-ghdm-wes-ces-panel-hasta-bilgilendirme-ve-onam-formu-revno-01.pdf linkinden ulaşılabilir.
Stabilite Özellikleri
2-8°C de 3 gün
Numune Red Kriterleri / Testi Etkileyen Faktörler
Transport süresi ve koşullarına uygun olmayan numuneler, dondurulmuş numuneler, pıhtılı numuneler. WES-CES-Gen Paneli, Hasta Bilgilendirme ve Onam Formu ve Genetik Testler için Anemnez ve Onam formları doldurulmayan numuneler
Test Bilgisi
ADA, AK2, CD247, CD3D, CD3E, CORO1A, DCLRE1C, FOXN1, IL2RG, IL7R, JAK3, LAT, LIG4, NHEJ1, PRKDC, PTPRC, RAG1, RAG2, TTC7A (19 Gen)
Klinik Kullanımı
Klinik Kullanım: ? X-Linked Severe Combined Immunodeficiency, ? SCID, Autosomal Recessive, T-Negative / B-Positive Type, ? Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive, ? Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, NK Cell-Positive, ? Severe Combined Immunodeficiency Due To ADA Deficiency,? Reticular Dysgenesis, ? Lig4 Syndrome, ? Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation, ? Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation, ? Omenn Syndrome, ? Immunodeficiency 8, ? Immunodeficiency 18, ? Immunodeficiency 19, ? Immunodeficiency 26, With Or Without Neurologic Abnormalities, ? Immunodeficiency 52, ? Combined Immunodeficiency, X-Linked, ? T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy, ? T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant, ? Combined Cellular And Humoral Immune Defects With Granulomas, ? Gastrointestinal Defects And Immunodeficiency Syndrome, ? Immunodeficiency Due To Defect In CD3-Zeta, ? Hepatitis C Virus, Susceptibility To