What is Exome Sequencing?Exome sequencing method; is one of the next-generation sequencing methods with the ability to provide high quality data used in the detection of problematic genes in diseases which cannot be diagnosed with clinical and laboratory examinations. Increase in the rate of diagnosis of Mendelian inheritance genetic diseases greatly contributes to the detection of carrier rates in the society, prenatal diagnosis studies and ensuring more effective treatment approaches in genetic diseases.
Trio exome sequencing is the performing of exome tests of the mother, father and the child's (if any) genetic materials at the same time. Thanks to this trio analysis, the genetic diseases carried by the family can be revealed in a more healthier way. Trio Exome Sequencing test is recommended by a doctor and presented together with detailed clinical information following the approval of the patient.
Trio Exome Sequencing
Which Diseases Can Be Examined?
• Neurological Diseases(Epilepsy, Mental Retardation, Autism Spectrum Disorder, Parkinson's Disease, Cowden Syndrome, Hereditary Neuropathies, etc.)
(Rhythm disturbances, Cardiomyopathies, Congenital Heart Diseases, Noonan Syndrome etc.)
• Cardiac Disorders
(Familial Breast Cancer, Ovarian Cancer, Colorectal Cancer, Medullary Thyroid Cancer, Prostate Cancer, etc.)
• Oncologic Diseases
(Diabetes, Obesity, Kallmann Syndrome, etc.)
• Endocrine Disorders
(Retinopathy and Optic Atrophy, Night Blindness, Congenital Cataract, Albinism, etc.)
(Congenital Glycolysis Disorders, Glycogen Storage Disorders, Hyperammoniemia and Urea Cycle Defects, Hypoglycemia, Lysosomal Storage Disorders, Maple Syrup Disease, etc.)
• Metabolism Disorders
(Severe Combined Immunodeficiency, Neutropenia, etc.)
• Immune System Disorders
• Diagnosis of complex genetic diseases
Why Do We Recommend This Test?
• Obtaining necessary information for treatment specific to the diagnosis
• Determination of carriage rates of genetic disorders in the society and individuals under risk
• Providing diagnosis opportunity in cases of pregnancy loss with unknown origin and infertility
• Your doctor may recommend this test to be carried out for the purpose of supporting prenatal diagnosis studies. Instead of carrying out many molecular tests in different times in order to diagnose, it allows to obtain a result with a single affordable study.