Genetic Diseases Assessment Clinic
Quality and reliable outpatient clinic and laboratory services are provided in Genetic Diseases Diagnosis Clinic for diagnosis, follow-up and treatment of all kinds of congenital diseases beginning from the process before pregnancy with modern up-to-date devices.
Main services provided in Genetic Diseases Assessment Clinic;
• Child or adult individuals with all kinds of rare diseases.• Suspicion of genetic disease in a newborn, all kinds of muscular diseases
• Growth-development retardation, children with short stature
• Sexual development disorders
• Those with a kin marriage and in the pre-pregnancy or pregnancy process
• Risky pregnancies (Pregnant women with ultrasound abnormality, scanning risk)
• Recurrent pregnancy losses (2 or more miscarriages)
• Infertility
• Consultancy for preimplantation genetic diagnosis (PDG, PGS) which requires embryo analysis in in-vitro fertilization
Main services provided in Genetic Laboratory;
• Hemato-oncology, gynecology, pediatric diseases being in the first place, all cytogenetic and molecular genetic test services are provided from a single sample in accordance with the indication in all branches in Genetic Diseases Assessment Diagnosis Clinic. • Whole Exome Analysis and Next Generation Sequencing Panels
• For this purpose, all of the genes in a human (approximately 23.000 genes) are genetically analyzed and scanned for around 7000 diseases.
• In the Genetic Diseases Assessment Diagnosis Clinic, "whole exome-sequencing analysis" which analyzes more than one gene simultaneously, clinical exome-sequencing analysis and NGS panel tests services are provided. It is ensured with these tests that the problematic genes are detected and the patients are diagnosed in individuals with genetic, metabolic/neurometabolic diseases that cannot be diagnosed despite detailed clinical and laboratory assessment.
Preimplantation Genetic Diagnosis (PGD)
Embryo extraction process, PGD (Preimplantation Genetic Diagnosis) is performed genetically for single gene diseases (all single gene diseases whose mutation is known such as Thalassemia and Cystic fibrosis, and diseases which require HLA tissue match).Embryo extraction applications PGS (Preimplantation Genetic Screening) are performed in the in-vitro fertilization process for diseases with chromosomal disorders as in the case of down syndrome.
Fetal DNA, NIPT (Non Invasive Prenatal Tests)
While diagnosis (Non Invasive Prenatal Diagnosis) of 44 single gene diseases such as Cystic Fibrosis, Thalassemia, Noonan Syndrome, Osteogenesis Imperfecta can be made from the mother's blood in pregnant women with Next Generation Sequencing technology in Genetic Diseases Assessment Diagnosis Clinic, every chromosome of the fetus can be screened (Non Invasive Prenatal Screening) numerically and structurally.
NGS Test Panels
• Cancer Genetic Panels (Comprehensive Screening for Breast and Ovarian Cancer, Hereditary Cancers)• Neurology (Neuropathies, Neuromuscular Diseases, Arthrogryposis...)
• Cardiovascular (Cardiomyopathy, Arrhythmias, Vascular & Connective Tissue Diseases...)
• Endocrine Disorders (Diabetes-Obesity, MODY...)
• Hematology (Bone Marrow Deficiency, Coagulation Disorders, Thrombosis...)
• Metabolism Disorders (Glycogen Storage Disorders, Lysosomal Storage Disorders...)
