Genetic Screening Package

Services

• Clinical examination and genetic evaluation
• Genetic consultation
• Polclinical Services
• Cytogenetics
• Prenetal Diagnosis
• Molecular Cytogenetics (FISH)

Somatic mutation and germline mutation is also applicable for cancer patients.

Tests

Hematological Diseases :

• Mediterranean anemia (Thalassemia)
• aplastic anemia
• Hemolytic Anemia
• Hereditary Erythrocytosis
• Polycythemia
• Neutropenia
• Thrombocytopenia
• Bleeding Disordersı (Hemophilia)

Onchological Diseases:

• Breast Cancer
• Overy Cancer
• Uterine Cancer
• Intestinal Cancer
• Leukemia
• Lymphoma
• Other Cancer Types

Neurogenetic Diseases:

• Intelligence And Developmental Retardation,
• Otism
• Epilepsy
• Spinal Muscular Atrophy (SMA)
• Muscular Diesaes (Muscular Dystrophies, Myotonic Syndromes)
• Spastic Paraplegia
• Ataxia
• Alzheimer's Disease
• Dementia

Cardiogenetic Diseases:

• Cardiovascular Dieases
• Congenital Abnormalities
• Cardiomyopathy
• Arrhythmia

Rheumatological and Immunological Diseases:

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

Metabolic Diseases:

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

Endocrinological Diseases:

• Diabetes
• Obesity
• Congenital Adrenal Hyperplasia
• Disorders of Sex Development
• Pubertal Diseases
• Hypogonadism
• Congenital Hypothyroidism
• Primary Ovarian Insufficiency (Early Menopause)
• Hyperparathyroidism

Nephrologic Diseases:

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

Additionaly, patients may receive 4800 gene including Clinical Exom Screening (CES) and Whole Exom Screening (WES) after genetic examination and consultation.