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Genetic disorder and its diagnosis
Disease caused genetic disorder are abnormality in an individual's DNA. These abnormalities can range from a small mutation in a single gene to the addition or deletion of an entire chromosome or set of chromosomes.

Determination of genetic disorder at embryonic level

Diagnosis can be done by prenatal testing of cells from an embryo, means that genetic disorders can now be detected before birth. At embryonic level genetic disorder can be detected with the help of amniotic fluid. Analysis of amniotic fluid, drawn out of the mother's abdomen is an amniocentesis procedure, which can reveal many aspects of the baby's genetic health. This is because the fluid also contains fetal cells, which can be examined for genetic defects.

In case of designer babies it is very important to diagnose the genetic status and in these process techniques of in vitro fertilization followed by Pre-implantation Genetic Diagnosis (PGD) are performed. One it is found normal then decision can be taken whether to implant the embryo or not.

Diagnosis can be done on the basis of person’s physical characteristics and family history, or on the results of a screening test.

Genetic testing is one of several tools that doctors use to diagnose genetic conditions. The approaches to making a genetic diagnosis include:

1- Physical examination: Distinctive facial features by organ measurements and imaging studies including x-rays, computerized tomography scans, or magnetic resonance imaging to see structures inside the body.

2- Personal and family medical history: Information about an individual’s health can provide clues to a genetic diagnosis. A personal medical history includes past health issues, hospitalizations and surgeries, allergies, medications, and the results of any medical or genetic testing that has already been done. As genetic conditions often run in families, information about the health of family members can be a critical tool for diagnosis of genetic disorders.

3- Laboratory tests, including genetic testing: chromosomal, molecular and biochemical testing are used to diagnose genetic disorders. There are laboratory tests that measure the levels of certain substances in blood and urine can also be done for diagnosis.

Testing of genetic imbalance is available for many genetic diseases. However, some diseases do not have a genetic test and in that condition either the genetic cause of the disorder is unknown or a test has not yet been discovered.
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