Genetic Screening Package

Genetic Screening Package

Patients are served under the following headings:

• Clinical examination and clinical genetic evaluation
• Genetic counseling
• Outpatient services
• Cytogenetics
• Prenatal diagnosis
• Molecular Cytogenetics (FISH)

In addition, tissue (somatic mutation) and blood (germline mutations) can be examined for cancer patients.

Some Test Examples Performed

Hematological Diseases:

• Mediterranean Anemia (Thalassemia),
• Aplastic Anemia
• Hemolytic Anemia
• Hereditary Erythrocytosis
• Polycythemia
• Neutropenia
• Thrombocytopenia
• Bleeding Disorders (Hemophilia) etc.

Oncological Diseases:

• Breast Cancer
• Ovarian Cancer
• Uterine cancer
• Bowel Cancer
• Leukemia
• Lymphoma etc. all cancers

Neurogenetic Diseases:

• Intelligence and Developmental Retardation
• Autism Epilepsy
• Spinal Muscular Atrophy (SMA)
• Muscle Diseases (Muscular Dystrophies, Myotonic Syndromes)
• Spastic Paraplegia
• Ataxia
• Alzheimer's
• Dementia etc.

Cardiogenetic Diseases:

• Cardiovascular Diseases
• Congenital Heart Anomalies
• Cardiomyopathy
• Arrhythmia etc.

Rheumatological, and Immunological Diseases:

• Familial Mediterranean Fever (FMF)
• Recurrent Fever Syndromes
• Immune Deficiency Syndromes
• Autoimmune Diseases (Behçet's Disease, Celiac Disease, Ankylosing Spondylitis, etc.), etc.

Metabolic Diseases:

• Amino Acid Metabolism Disorders
• Organic Acidemias
• Mitochondrial Diseases
• Glycogen Storage Diseases
• Lipid Storage Diseases etc.

Endocrinological Diseases:

• Diabetes
• Obesity
• Congenital Adrenal Hyperplasia
• Gender Developmental Disorders
• Pubertal Diseases
• Hypogonadism
• Congenital Hypothyroidism
• Premature Ovarian Insufficiency (Early Menopause)
• Hyperparathyroidism etc.

Nephrological Diseases:

• Nephropathies
• Polycystic Kidney Disease
• Hemolytic Uremic Syndrome
• Alport Syndrome etc.

In addition, after the evaluation of the patients by the Medical Genetic Specialist, CES (clinical exome panel) and WES (whole exome sequence analysis) tests containing 4800 genes can also be studied.