Genetic Diseases Evaluation Clinic

In the Genetic Diseases Diagnostic Clinic, quality and reliable polyclinic and laboratory services are provided for the diagnosis, follow-up and treatment of all kinds of hereditary diseases, starting from the pre-pregnancy period, with modern up-to-date devices.

The main services provided in the Genetic Diseases Evaluation Clinic are;

• Children or adults with all kinds of rare diseases.
• Suspicion of genetic disease in the newborn baby, all kinds of muscle diseases
• Children with growth retardation and short stature
• Disorders of sex development
• Those who are consanguineous before or during pregnancy
• Risky pregnancies (pregnant women with ultrasound anomalies and screening risk)
• Repeated pregnancy losses (2 or more miscarriages)
• Inability to have children (infertility)
• Preimplantation genetic diagnosis (PGD, PGS) consultancy requiring embryo analysis in in vitro fertilization

The main services provided in the Genetics Laboratory are;

• In the Genetic Diseases Evaluation and Diagnosis Clinic, all cytogenetic and molecular genetic testing services are provided from a single sample in accordance with the indication in all branches, especially hemato-oncology, gynecology and pediatrics.
• Whole Exome Analysis (WES) and NGS (Next Generation Sequencing) Panels
• For this purpose, all genes in a person (approximately 23,000 genes) are genetically analyzed and approximately 7000 diseases are screened.
• In the Genetic Diseases Evaluation and Diagnosis Clinic, "Whole exome sequence analysis" (WES), clinical exome sequence analysis (CES) and NGS panels testing services are offered, in which multiple genes are analyzed simultaneously. With these tests, the responsible genes are identified in individuals with genetic, metabolic/neurometabolic diseases that have undergone detailed clinical and laboratory evaluation but cannot be diagnosed, and the patients are diagnosed.

Preimplantation Genetic Diagnosis (PGD)

PGD (Preimplantation Genetic Diagnosis) is the process of genetically selecting embryos for single gene diseases (all single gene diseases with known mutations, such as Thalassemia, Cystic fibrosis, and diseases that require HLA histocompatibility).

For diseases caused by chromosomal disorders, such as Down syndrome, embryo selection and PGS (Preimplantation Genetic Screening) applications are performed at the in vitro fertilization stage.

Fetal DNA, NIPT (Non-Invasive Prenatal Tests)

At the Genetic Diseases Evaluation and Diagnosis Clinic, with the Next Generation Sequencing technology, all chromosomes of the fetus can be scanned numerically and structurally (Non-Invasive Prenatal Diagnosis), with the diagnosis of 44 single gene diseases such as Cystic Fibrosis, Thalesemia, Noonan Syndrome, Osteogenesis Imperfecta from the maternal blood of pregnant women (Non-Invasive Prenatal Diagnosis). invasive Prenatal Screening).

NGS Test Panels

• Cancer Genetics Panels (Breast and Ovarian Cancer, Hereditary Cancers Comprehensive Screening)
• Neurology (Neuropathies, Neuromuscular Diseases, Arthrogryposis…)
• Cardiovascular (Cardiomyopathy, Arrhythmias, Vascular & Connective Tissue Diseases…)
• Endocrine Disorders (Diabetes-Obesity, MODY…)
• Hematology (Bone Marrow Failure, Coagulation Deficiencies, Thrombosis…)
• Metabolism Disorders (Glycogen Storage Disorders, Lysosomal Storage Disorders…)