PharmaGene Lab

What is genetic testing?

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 77,000 genetic tests are currently in use, and others are being developed.

Genetic testing involves looking for changes in:

Genes: Gene tests study DNA sequences to identify variations (mutations) in genes that can cause or increase the risk of a genetic disorder. Gene tests can be narrow or large in scope, analyzing an individual DNA building block (nucleotide), one or more genes, or all of a person’s DNA (which is known as their genome). 

Chromosomes: Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

Proteins: Biochemical genetic tests study the amount or activity level of proteins or enzymes; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.

Reasons for Genetic Testing

Why it's done

Genetic testing plays a vital role in determining the risk of developing certain diseases as well as screening and sometimes medical treatment. Different types of genetic testing are done for different reasons:

Diagnostic testing. If you have symptoms of a disease that may be caused by genetic changes, sometimes called mutated genes, genetic testing can reveal if you have the suspected disorder. For example, genetic testing may be used to confirm a diagnosis of cystic fibrosis or Huntington's disease.

Presymptomatic and predictive testing. If you have a family history of a genetic condition, getting genetic testing before you have symptoms may show if you're at risk of developing that condition. For example, this type of test may be useful for identifying your risk of certain types of colorectal cancer.

Carrier testing. If you have a family history of a genetic disorder — such as sickle cell anemia or cystic fibrosis — or you're in an ethnic group that has a high risk of a specific genetic disorder, you may choose to have genetic testing before having children. An expanded carrier screening test can detect genes associated with a wide variety of genetic diseases and mutations and can identify if you and your partner are carriers for the same conditions.

Pharmacogenetics. If you have a particular health condition or disease, this type of genetic testing may help determine what medication and dosage will be most effective and beneficial for you.

Prenatal testing. If you're pregnant, tests can detect some types of abnormalities in your baby's genes. Down syndrome and trisomy 18 syndrome are two genetic disorders that are often screened for as part of prenatal genetic testing. Traditionally this is done looking at markers in blood or by invasive testing such as amniocentesis. Newer testing called cell-free DNA testing looks at a baby's DNA via a blood test done on the mother.

Newborn screening. This is the most common type of genetic testing. In the United States, all states require that newborns be tested for certain genetic and metabolic abnormalities that cause specific conditions. This type of genetic testing is important because if results show there's a disorder such as congenital hypothyroidism, sickle cell disease or phenylketonuria (PKU), care and treatment can begin right away.

Preimplantation testing. Also called preimplantation genetic diagnosis, this test may be used when you attempt to conceive a child through in vitro fertilization. The embryos are screened for genetic abnormalities. Embryos without abnormalities are implanted in the uterus in hopes of achieving pregnancy

1-      Mission

The Mission of the Genetic Testing center is to provide the most reliable genetic testing, at a reasonable price, with an exceptional level of service to the client.

The Genetic Testing center will strive to lead the industry to higher levels of reliability in DNA testing through discussion, example, and competitive pressure.

2-      Vision

·         Envision a world in which reliable, affordable DNA genetic testing is available to all who need it.

·         Envision a society in which the workplace is a positive expression of an individual’s contribution to society, in which the individual feels both responsible and proud, no matter what job the individual performs.