Kalıtsal Hematolojik Hastalıklar Gen Paneli
Test Bilgileri
Numune Alınma Şekli
Numune alınmadan önce WES-CES-Gen Paneli, Hasta Bilgilendirme ve Onam Formu ve Genetik testi Anamnez&Onam formu doldurulması zorunludur.
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
Test Bilgisi
Kalıtsal Hematolojik Hastalıklar Gen Paneli Gen listesine ulaşmak için; https://docs.google.com/document/d/1ZYiL_b6buRsrhbsSil3-PWE_HPeM42sP/edit?usp=sharing&ouid=117149353736022980982&rtpof=true&sd=true
Klinik Kullanımı
Afibrinogenemia, Alpha Thalassemia, Anemia, Bernard-Soulier Syndrome, Bloom Syndrome, Bleeding Disorders, Bone Marrow Failure, Cerebral Cavernous Malformations, Chylomicronemia, Chromosomal Instability Syndromes, Coagulation Deficiency, Congenital Disorders of Glycosylation, Congenital Dyserythropoietic Anemia, Congenital Sideroblastic Anemia, Crigler-Najjar Syndrome, Diamond-Blackfan Anemia, Dyskeratosis Congenita, Factor VII Deficiency, Fanconi Anemia, Gilbert Syndrome, Glucose-6-Phosphate Dehydrogenase Deficiency, Hemochromatosis, Hemoglobin Disorders, Hemophilia A, Hemophilia B, Hereditary Hemorrhagic Telangiectasia, Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML), Hereditary Spherocytosis, Hermansky-Pudlak Syndrome, Hypercholesterolemia, Metabolism of Cobalamin, Folate and Homocysteine, Myelodysplastic Syndrome (MDS), Myelofibrosis, Neutropenia, Platelet Disorders, Protein S Deficiency, Pseudohypoaldosteronism Type 2, Shwachman-Diamond Syndrome, Sitosterolemia, Spherocytosis, TAR Syndrome, Thrombocytopenia, Thrombotic Disorder, Thrombotic Microangiopathy, Von Willebrand Disease, Vascular Malformations, Xerocytosis