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Genetic Tests

Testing for genes and genetic composition is already part of the latest trend today.  The techniques used in doing these tests usually are very sophisticated.  They involve direct visualization of the DNA and biological and chemical tests for enzymes and proteins.

There are many reasons why genetic testing is done. This includes:

• Screening for carriers so that individuals who carry the abnormal genes can be identified.
• Diagnose diseases and abnormalities in the embryo right before they grow into a fetus.
• Newborn screenings to see whether the infant is having genetic abnormalities days after it was born.
• To recognize one’s genealogy, paternity, or ancestry.
• To confirm diagnoses when there are already symptoms of a genetic disorder like Huntington’s disease.
• It will aid in helping physicians and oncologists estimating the probabilities of a person developing the disease such as cancer and Alzheimer’s.
• To identify who an unknown body belongs to using forensic expertise.

How is this genetic test carried out?  Each person normally has a copy of the genes from both their parents.  There are two actually, one from the mother, and one from the father, plus another set depending on their sex.  There are up to 25,000 genes possible in the human genetic composition or genome.

Testing for genes involves studying the chromosomes and conducting biochemical tests for the presence of possible abnormalities or mutations to prevent these from progressing. It is also used to make comparisons from previous tests.  In couples with an inherited disorder, it will also determine whether the condition can develop in their possible children.  At present, there are already a hundred more tests being developed and are being used.

Some people are really sensitive about the issue of genetic testing and so prior to such tests genetic counselling is also done.

The genetic tests available today include the following:

• Newborn Screening which is used to test infants for PKU, congenital hypothyroidism, and more.  It is done by screening infant’s blood taken from the heel.
• Diagnostic testing which is used to rule out, diagnose, and confirm specific disorders.  This can be done at any age; however, not all conditions have diagnostic testing.  It is also not available in all areas.  Whatever comes out from this, will definitely change one’s view about their health care choices and disease management.
• Carrier testing is offered for families with histories of genetic abnormalities and to certain groups of ethnicity who are predisposed to having genetic problems.  This will help identify who carries a copy of mutated genes.
• Prenatal testing applies the same principle as carrier testing.  But this time, instead of testing the carriers, the fetus is the one being tested.  This is to help parents with predisposition to genetic abnormalities determine whether they should continue with the pregnancy or not.
• Preimplantation diagnosis.  These procedures focus on performing testing to human embryos before they undergo implantation during in-vitro fertilizations.
• Forensic testing.  Using the DNA sequence obtained from the unidentified person, this test is done to confirm identity.  It is also used to identify possible suspects in a crime, and to solve a criminal case.

Aside from the ones above, there are still many other genetic tests used to test for genetic disorders, ancestry, and more.  If one has the resources and the money, it is recommended that they undergo such procedures to ensure the health of possible children and aging family members. 

Your genes, your blueprint

Anybody can do anything that he imagines. - Henry Ford