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Genetic Disorders and Reasons Behind them




According to doctors, many human diseases have a genetic part; some of them are under investigations by researchers; while some of them are orphan and rare diseases. In many cases, it is seen that physicians are unable to put a name to a genetic condition. If it happens, the condition in a child or an adult is counted as undiagnosed rare or genetic disorder. Some of the common Genetic diseases or genetic disorders are 


  • Cystic Fibrosis and Fragile X Syndrome

  • Spinal Muscular Atrophy and Sickle-Cell Disease

  • Alpha and Beta Thalassemia and Tay-Sachs Disease

What is more important than anything else for intended parents to get the genetic tests done in the supervision of professionals. You have to schedule an appointment to centers where they are done. 

Genetic Tests – Essential to Determine the Risk of Potential Genetic Disorders and Diseases

Genetictesting is one of the important procedure done by analyzing small samples of blood or tissues from the blood to determine whether you, your partner or baby carry genes for inherited disorders. It is vital to help doctors to pinpoint missing or defective genes. These tests are required and of course essential to diagnose diseases on particular illness that your doctor may suspect. 

Such type of testing is not just limited to blood sample or tissues, but can be done through different types of body fluids and tissues. However, it is important to note that only a very tiny blood sample is required or skin, bone or other tissues are required for deoxyribonucleic acid or DNA screening. 

Why Genetic Testing is Important for the Duration of Pregnancy

For intended parents, it is one of the vital decisions to make to ensure good health of their baby who is still in uterus and coming to the world in few weeks or months. Pregnant woman may decide to undergo amniocentesis or chronic villus sampling before birth. A blood test is also done for geneticscreening and to screen for many disorders. If any kind of problem is find, amniocentesis or chorionic villus sampling is required. 

This type of testing is preferred and done from 15 to 20 weeks of pregnancy by a simple method of hallowing a needle into the abdomen to remove a small amount of amniotic fluid from around the developing fetus. 

This fluid later can be tested for genetic problems and to determine the sex of the child. Not to mention CVS or Chorionic Villus Sampling that is performed between 10th to 12th week of pregnancy. 

You have to schedule an appointment to doctors or experts of a center where such genetic testing procedures are performed.

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