Overview

Genetic research is leading to the development of more genetic tests that can be used for the diagnosis of genetic conditions. Genetic tests can be used to diagnose a disease in an individual with symptoms and to help measure risk of developing a disease.  Results of genetic tests can help physicians select appropriate treatments for their patients.

 

What is genetic testing?

Genetic tests look for alterations in a person's genes or changes in the level or structure of key proteins coded for by specific genes. Genetic tests can also be used to look at levels of RNA that play a role in certain conditions. Abnormal results on these tests could mean that someone has a genetic disorder or a gene that functions suboptimally.

 

Types of genetic tests performed here include:

• Detox Pathways tests- this test pinpoints exactly how efficiently your liver is carrying out the detoxification process

• Cardiac tests- used to detect genetic cardiac conditions

• Estrogen tests - these tests may be used to aid in the diagnosis of an ovarian tumor, Turner syndrome, and hypopituitarism. In males, it may help in the diagnosis of the cause of gynecomastia or in the detection of estrogen-producing tumors.

• Immune tests - can tell you whether there are any diseases causing mutations in your DNA that could cause disease relating o or affecting the immune system. The test is often referred to a genetic predisposition test, a type of genetic analysis which estimates how likely it is that you will develop a given autoimmune disease over the course of your lifetime.

• Neurological tests - laboratory screening tests of blood, urine, or other substances are used to help diagnose disease, better understand the disease process, and monitor levels of therapeutic drugs. Certain tests, ordered by the physician as part of a regular check-up, provide general information, while others are used to identify specific health concerns.

• Bone tests - Identify whether you are more likely to be susceptible to spine fractures and low bone mineral density associated with osteoporosis. Early intervention now can help prevent osteoporosis later. Preventive measures can reduce the risk of bone loss and fractures

• Non-medical/Other tests Other non-medical types of tests may scan your genome for genetic variants related to various aspects of your life. These may include genetic markers that might your physical traits, your ancestry, or your personality. These tests often do not claim to provide specific information about disease risk, but some of the results may have implications for your health.

 

Genetic testing can:

1. Give a diagnosis if someone has symptoms.

2. Show whether a person is a carrier for a genetic disease. Carriers have an altered gene, but will not get the disease. However, they can pass the altered gene on to their children.

3. Help identify what supplements, treatements or dietary changes can help you.

4. Show whether a person has an inherited disposition to a certain disease before symptoms start.

5. Determine the type or dose of a medicine that is best for a certain person. This is called pharmacogenetics.

 

People in families at high risk for a genetic disease have to live with uncertainty about their future and their children's future. A genetic test result that can show that a known alteration causing disease is not present in a person can provide a sense of relief.

 

A genetic test result showing that a person has a disease-causing gene alteration can also provide benefits. Such a test result might lead a person to take steps to lower his/her chance of developing a disease. For example, as the result of such a finding, someone could be screened earlier and more frequently for the disease and/or could make changes to health habits like diet and exercise. Such a genetic test result can lower a person's feelings of uncertainty, and this information can also help people to make informed choices about their future.

 

I can help determine what is appropriate for your healthcare needs and if/what testing is right for you. Genova Diagnostics Labs are used for genetic testing.