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What is genetic testing?

Genetic testing is tests conducted on blood and tissue samples to find genetic disorders. The newest and most sophisticated of the techniques used to test for genetic disorders, involve direct examination of the DNA molecule itself.

How does it work?

Doctors scan a patient's DNA (obtained from any tissue or blood) for any mutated sequences. For some types of tests researchers design short pieces of DNA called probes, whose sequences are complementary to the mutated sequences. These probes will seek their complement among the three billion base pairs of an individual's genome. If the mutated sequence is present in the patient's genome, the probe will bind to it and flag the mutation. Another type of DNA testing is comparing a patient's DNA bases to those of a normal version of genes.

What diseases does genetic testing test for?

Currently, there are over 1,000 diseases that are able to be genetically tested for.

A few examples of genetically tested diseases are:

What are the different types of tests?

  • Carrier Screening- identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed
  • Preimplantation Genetic Diagnosis (PGD)- a test that screens for genetic flaws among embryos used in invitro fertilization.
  • Prenatal Diagnostic Testing- tests done to screen or diagnose for birth defects prior to birth.
  • Newborn Screening- tests conducted to newborns to screen for serious genetic diseases.
  • Presymptomatic Testing- tests conducted on adults for onset disorders.
  • Predispositional Testing- tests for eventual development of likely symptoms but not certain when the mutation is present.
  • Forensic/Identity Testing- tests for paternity or maternity
Prenatal Genetic Testing - tests done to screen or diagnose for birth defects prior to birth.

How much does Genetic Testing cost?
In most cases, genetic testing costs from about $200 too $3,000 ranging from the type of test of a certain disease. Insurance companies do not usually cover the costs of genetic testing. Contact your insurance company or doctor for more information about the costs of genetic testing.
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