Exome Sequencing

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  

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.

Which Diseases Can Be Examined?

•    Neurological Diseases

 (Epilepsy, Mental Retardation, Autism Spectrum Disorder, Parkinson's Disease, Cowden Syndrome, Hereditary Neuropathies, etc.)

•    Cardiac Disorders

   (Rhythm disturbances, Cardiomyopathies, Congenital Heart Diseases, Noonan Syndrome etc.)

•    Oncologic Diseases

    (Familial Breast Cancer, Ovarian Cancer, Colorectal Cancer, Medullary Thyroid Cancer, Prostate Cancer, etc.)

•    Endocrine Disorders

    (Diabetes, Obesity, Kallmann Syndrome, etc.)

•    Ophthalmology

    (Retinopathy and Optic Atrophy, Night Blindness, Congenital Cataract, Albinism, etc.)

•    Metabolism Disorders

 (Congenital Glycolysis Disorders, Glycogen Storage Disorders, Hyperammoniemia and Urea Cycle Defects, Hypoglycemia, Lysosomal Storage Disorders, Maple Syrup Disease, etc.)

•    Immune System Disorders

  (Severe Combined Immunodeficiency, Neutropenia, etc.)

Why Do We Recommend This Test?

•    Diagnosis of complex genetic diseases 
•    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.

Exome Sequencing Results

It may take several weeks for the test to be completed. Your doctor or genetic consultant will report you the results. There are four possible results; - positive, - negative, - with unknown clinical importance, - additional findings.  Also, the table within the report explains what each of these mean and what the next steps may be.