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Medical Genetics is a department that deals with diagnosis and management of genetic diseases as well as familial and personal genetic counseling. Thanks to Medical Genetics specialists, who follow scientific developments closely, and technological infrastructure of our department, our approach aims to guide patients and clients in terms of diagnosis, treatment and prevention of diseases by correlating clinical findings with laboratory data.

DNA is a genetic inheritance of our parents and it involves all information that regulates our personal characteristics. These details cover personal characteristics, including blood type, weight and height, and other factors that dictate tendency to or resistance to hundreds of conditions, such as diabetes, cancer and cardiovascular diseases. Our personal characteristics and diseases are subject to interaction of the information encoded in our DNA and environmental factors. Today, we step into a totally new era, where knowledge and technologies of genetics lend us the key of a long and healthy life.

Medical Genetics investigates and offers counseling for genetic diseases that are positive in family history, other diseases that have not been diagnosed, but develops in many members of family (for example cancer, diabetes mellitus, neurological disorders, eye disease and heart diseases diagnosed before 50 in more than one person), history of idiopathic infant/child death, child planning following consanguineous marriage and many other conditions that are positive in family history.

Why is Genetic Carrier Screening required for Genetic Diseases?

Contrary to popular belief, being carrier of a genetic disease is a quite common condition Based on current knowledge, carrier rates are 4 out of 100 people for Phenylketonuria , 4 out of 100 people for Cystic Fibrosis , 2 out of 100 people for Spinal Muscular Atrophy (SMA) and 2 out of 100 people for Familial Mediterranean Anemia (Thalassemia) . In Medical Genetics department, all carrier screening tests are quickly and successfully analyzed before marriage and future pregnancies or during pregnancy in order to plan best approach for healthy pregnancy and infant.

What is Preimplantation Genetic Diagnosis (PGD)?

PGD is a genetic diagnosis method that is used to rule out risk of certain diseases for infants by combining genetic diagnosis with in vitro fertilization techniques in order to ensure birth of a healthy infant in couples, who have a documented genetic disease.

PGD can be used for almost all genetic diseases with documented cause and some of these conditions are as follows:

  • Spinal Muscular Atrophy (SMA)
  • Thalassemia (Mediterranean Anemia)
  • Duchenne’s/Becker’s Muscular Dystrophy
  • Fragile X
  • Phenylketonuria
  • Chromosomal diseases etc.

What is Non-invasive Prenatal Testing (NIPT)?

NIPT is among earliest and easiest screening tests that can be performed with intrauterine approach to diagnose numerous genetic disorders that threaten health of baby, especially including chromosomal diseases. Freely circulating DNA of fetus can be analyzed in a blood sample of mother as of 9 weeks. Since blood sample is collected from mother, fetus is not subject to a risk. Rate of incorrect result is extremely low.

How is NIPT performed?

NIPT is an extremely easy process. As is the case with any other test, blood sample is collected from a vein in arm of mother and results are reported in 7 to 14 days. Genetic counseling can be offered by our experienced Medical Genetics specialists before and after the test.

Genetic Counseling in Cancer

Our Medical Genetics specialists serve clients and patients to inform people, who have positive personal or family history for cancer or carries an inherited gene mutation or has risk of carrying such a mutation, and their families about course of disease, treatment methods, recurrence risks and available preventive solutions in order to plan necessary tests and report their results.

Published by Acıbadem Web and Medical Content Editorial Board Update Date: Thursday, July 28, 2022 Publish Date: Thursday, July 28, 2022


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