Tanıtım
Genel Bilgiler
Sağlık Bilimleri Üniversitesi, Tepecik Eğitim ve Araştırma Hastanesi, Genetik Hastalıklar Değerlendirme Merkezi; ilk olarak 2009 yılında açılan Tıbbi Genetik polikliniği ile hizmet verilmeye başlanılmış, 2010 yılında moleküler genetik laboratuvarımız oluşturulmuştur. 2011 yılında moleküler genetik alanında ruhsat başvurusunda bulunulmuş, 2012 yılında “Genetik Tanı Merkezi” olarak ruhsatlandırılmıştır.
İzmir Tepecik Training and Research Hospital, Genetic Diagnosis Center
University of Health Sciences, İzmir Tepecik Training and Research Hospital, Genetic Diagnosis Center, started to serve with the Medical Genetics outpatient clinic in 2009. In 2010, the molecular genetics laboratory was started to be built and in 2011, a license application was made in the field of molecular genetics. In 2012, our center was licensed as a "Genetic Diagnosis Center".In August 2016, our department moved to Tepecik Training and Research Hospital-Bornova Building. Since then, our center has been serving in the fields of clinical genetics, Molecular Genetics, and Cytogenetics with 8 Medical Genetics specialist physicians (2 of whom are Associate Professors), 2 biologists, and 4 laboratory technicians.
In the outpatient clinics of our center,
Clinical evaluations to investigate the etiology of mental retardation and multiple congenital anomalies are being carried out. For the conditions such as rare diseases and familial cancers, genetic counseling services are provided to families.
In the Cytogenetics Laboratory of our center,
Chromosome analysis in peripheral blood samples is performed to investigate the etiology of infertile couples; chromosome analysis in prenatal samples is performed for fetal anomalies or prenatal risk increases and chromosome analysis and FISH studies in bone marrow samples are performed for the diagnosis and follow-up examination of hematological malignancies.
In the Molecular Genetics Laboratory of our center,
For the diagnosis of rare diseases and other single-gene diseases, "Next-generation sequence analysis-NGS” is used. For the investigation of the etiology of mental retardation and multiple congenital anomalies, microarray analysis that can be applied in very few centers in the country is performed. For the diagnosis and determination of the prognosis of cancers, various molecular genetic methods that can be studied from tissue samples or tumor-derived extracellular free DNA (ccfDNA) samples are used.
In our genetic diagnosis center, an average of 15,000 patients are evaluated annually and an average of 25,000 tests are performed.
In 2018, the first time in our country, the Non-invasive Prenatal Test (NIPT) Symposium was held in our department.
Tarihçemiz
Ağustos 2016 döneminde bölümümüz Tepecik Eğitim Araştırma Hastanesi Bornova Ek Binasına taşınmış o tarihten bu yana Poliklinik ve Moleküler Genetik- Sitogenetik alanlarındaki hizmetlerini 2’ si Doçent olan, 8 Tıbbi Genetik uzmanı hekimi, 2 biyolog ve 4 laboratuvar teknisyeni ile sürdürmektedir.
Akademik Kadromuz
Prof. Dr. ALİ KARAMAN
Doç. Dr. TAHA REŞİD ÖZDEMİR
Çalışma Konularımız
Polikliniklerimizde, çocuklardaki mental retardasyon ve multiple konjenital anomalilerin etyolojisinin araştırılması için klinik değerlendirme; nadir hastalıklar, ailevi kanserler gibi durumlar için genetik danışma hizmetleri verilmektedir.
Sitogenetik Laboratuvarında, infertil çiftlerin etyolojisinin araştırılması için periferik kan kromozom analizi, fetal anomaliler ve prenatal risk artışları için prenatal örneklerde kromozom analizler; hematolojik malignitelerin tanı ve takibi için kan ve kemik iliği örneklerinden kromozom analizi ve FISH çalışmaları yapılmaktadır.
Moleküler Genetik Laboratuvarında,
Nadir hastalıklar ve diğer tek gen hastalıklarının tanısı için “Yeni nesil dizi analizi-NGS” yönteminin kullanıldığı çoklu gen panel analizleri, ülkede çok az merkezde uygulanabilen mikroarray analizi, kanserlerin tanı ve prognoz belirlenmesinde kullanılan, doku örneklerinden ya da tümör kaynaklı hücre dışı serbest DNA' (ccfDNA) örneklerinden çalışılabilen moleküler genetik yöntemler uygulanmaktadır.
Bölümümüzde yıllık ortalama 15.000 hasta değerlendirilip, ortalama 25.000 test çalışılmaktadır.
2018 yılında ülkemizde ilk olarak Non-invaziv Prenatal Test Sempozyumu bölümümüzde gerçekleştirilmiştir.
• Clinical Genetics (outpatient clinics)
Clinical evaluation
Familial risk determination in rare diseases and familial cancers
Genetic Counseling
Planning of preventive approaches such as Preimplantation genetic Diagnosisor Prenatal Diagnosis
• Molecular Genetics Laboratory
Next-generation sequence(NGS) analysis of multigene panels including
Metabolic Disorders such as Mucopolysaccharidoses Syndromes, Fatty Acid Oxidation Disorders, Lysosomal Storage/Glycogen Storage Disorders
Endocrine Disorders such as Obesity, MODY, Thyroid Dysfunction, Hypogonadismand Short Stature
Gastrointestinal Disorders such as Chronic Malabsorption, Chronic Pancreatitis, Chronic Diarrhea and Cholestase
Neurological and Neuromuscular Disorders such as Mental Retardation, Epilepsy, Muscular Dystrophies and Neuropathies
Cardiovascular Disorders such as Aortopathies and Arrhythmias
Inherited ors poradic cancers such as Breast Cancer, Colon Cancerand Lynch syndrome (forthe investigation of germ line and somatic changes from tissue samples or tumor-derived extra cellular free DNA (ccfDNA))
Genetic Syndromes such as Charge, Kabuki, Meckel, Rubinstein-Taybi and Seckel Syndrome
Clinical and whole exomeanalysis (WES)for the investigation of theetiology of rare diseases and undiagnosedcases.
Real Time PCR detection of Chromosomal Translocations in hematological malignancies and Somatic Mutations (EGFR, KRAS, NRAS, BRAF) in Tissue and Plasma (ccfDNA) Samples.
Capillary electrophoresis for Sanger Sequencing (for the detection of sequence changes), MLPA (for the detection of deletions and duplications) and fragmentanalysis.
SNP Microarrayanalysis for the investigation of theetiology of mental retardation and multiple congenital anomalies.
• Cytogenetics Laboratory
Chromosom eanalysis (from peripheral blood, prenatal samples, hematological sample sand various tissue samples)
FISH analysis (from peripheral blood, prenatal samples, hematological samplesandvarioustissue samples)