The Main Services Provided at the Genetic Diseases Evaluation Clinic

All cytogenetic and molecular genetic testing services are performed in accordance with the indication in all branches, especially pediatric diseases, obstetrics and gynecology, neurology, hematology, and oncology in our Genetic Diseases Evaluation Outpatient Clinic. All genes in humans (about 20,000 genes) are genetically analyzed to investigate about 7000 single gene diseases and all all chromosomal diseases.

A) Cytogenetic Tests

Chromosome analysis (from blood, CVS, amniocentesis, cordocentesis, miscarriage material) FISH analyses (children with an anomaly, hematology tests, targeted oncological tests, rapid detection of chromosomal diseases during pregnancy Molecular karyotyping (Array CGH)

B) Next Generation Sequencing (NGS) Gene Panels, Whole Exome Sequencing (WES) Analyses and Whole Genome Sequencing (WGS) Analyses

These tests, detailed clinical and laboratory evaluations can be performed to determine the diagnosis and treatment of genetic diseases in our outpatient clinic. Examples of NGS panels; Hereditary cancer Panel (Breast, Ovarian, bowel, stomach etc.) Neurological diseases panel (Epilepsy, SMA, neuropathies, muscle Diseases etc.) Cardiovascular diseases panel (cardiomyopathy, arrhythmias, vascular, connective tissue Diseases...) Endocrine Disorders panel (Diabetes-Obesity, congenital adrenal hyperplasia, thyroid...) Hematological diseases panel (Bone Marrow Failure, Coagulation Deficiencies, Thrombosis...) Metabolic Disorders panel (Glycogen Storage Disorders, Lysosomal Storage Disorders...)

C) Preimplantation Genetic Diagnosis and Screening (PGD-PGS)

At our outpatient clinic, embryo selection process PGD (Preimplantation Genetic Diagnosis) is performed for single gene diseases (for all single gene diseases with known mutations such as thalassemia, cystic fibrosis and diseases requiring HLA tissue compatibility). At our outpatient clinic, embryo selection PGS (Preimplantation Genetic Screening) procedures are performed at the in vitro fertilization stage for diseases caused by chromosomal disorders such as Down Syndrome.

D) FETAL DNA, NIPT (Non-Invasive Prenatal Tests)

At our outpatient clinic, numerical and some structural anomalies of all chromosomes of the fetus can be scanned from the maternal blood with New Generation Sequencing (NGS) technology. In general, it can be performed at 10-11 weeks of pregnancy and onwards and the results are obtained in 10-15 days.

E) Targeted (Smart Drug) Cancer and Immunotherapy Tests

Targeted cancer therapies are medications designed to interfere with specific molecules required for tumor growth and progression. Genetic testing for cancer treatment detects mutations and thus identifies tumors that may be susceptible or resistant to targeted therapy.

F) Carrier Genetic Test (CGT)

Carrier genetic tests are testing that will reveal whether a couple is at risk of having a ill child. Almost every person is a carrier of one or more mutations in various genes. For example, it is known that 1 in 25 people in our society is a carrier of the CFTR gene mutation that causes cystic fibrosis, 1 in 50 is a carrier of the HBB gene mutation that causes beta Thalassemia, and 1 in 50 people is a carrier of the SMN1 gene mutation that causes SMA. There are hundreds of recessive inherited diseases such as these diseases. With this test, carrier detection can be done and a healthy child can be born by embryo selection.