Genetic Testing

Are you planning to start a family? If you have a family history of genetic conditions, you might be more likely to have a baby with a genetic disorder. Learning more about your family health history before getting pregnant can give you time to deal with any complications.

Genetic testing is a type of medical test that examines the DNA to determine the changes in chromosomes, genes, or proteins. The results of a genetic test help identify a person’s chance of developing or passing on a genetic disorder. It can rule out whether you, your partner or your baby carry genes for certain inherited disorders.

There are certain methods used by family medicine doctors for genetic testing, including:

  • Chromosomal genetic tests to analyze the long length of DNA or whole chromosomes for genetic changes, such as an extra copy of a chromosome that lead to a genetic condition.
  • Molecular genetic or gene tests to examine short lengths of DNA or single genes for identifying changes or mutation that causes a genetic disorder.
  • Biochemical genetic tests to study the activity level or amount of proteins. Any abnormalities can signal changes to the DNA that result in a genetic condition.

Why Do Family Doctors Recommend Genetic Testing?

Why Do Family Doctors Recommend Genetic Testing

Your family practice doctor may recommend genetic testing for any of the following reasons.

  • A couple plans a baby and one of the partners or a close relative has a genetic illness. Some genetic illnesses are recessive, which means they show up if a person inherits two copies of the problem gene, one from each parent. A child who inherits one problem gene from one parent but a normal gene from the other won’t have symptoms.
  • Although children with birth defects do not necessarily have a genetic disorder. The family medicine doctor may recommend a parent who already has a child with a severe birth defect to get genetic counseling. Sometimes, infection, toxins or physical trauma can lead to birth defects.
  • If you have had two or more miscarriages, you must take genetic testing from your family care doctor. A spontaneous miscarriage can be caused by serious chromosome problems in the fetus.
  • When a pregnant woman is over age 34 or older, the chances of having an offspring with a chromosomal problem increase. Moreover, an older father is at risk to have a child with a new dominant genetic mutation.
  • When a child has medical problems that are suspected as a specific genetic syndrome, genetic counseling or testing is performed to confirm the diagnosis. It also helps in identifying the type and severity of a genetic illness.
  • Genetic illnesses of severe levels can cause physical abnormalities that give an affected infant a very different appearance. Genetic testing is advised for a woman who has delivered a stillborn child with physical signs of a genetic illness.
  • If you have had a standard prenatal screening test that indicates a chance of genetic disorder, your family medicine doctor may order for genetic testing.

Types of Genetic Testing

Types of Genetic Testing

From identifying the risk of developing certain diseases to screening and aiding in medical treatment, genetic testing plays a critical role in providing information about diagnosing, treating and preventing illness. Family practice doctor performs several types of genetic testing for different reasons.

Diagnostic Testing – It is used to identify a specific chromosomal condition. It is also used to confirm a diagnosis for a suspected disorder based on physical symptoms. This test can be performed before birth or at any time during a person’s life. The type of health care needed and the management of the disorder depends on the results.

Newborn Screening – The most common type of genetic testing, it is used to test newborns for certain genetic and metabolic abnormalities that lead to specific conditions. Newborn screening is performed just after birth to identify genetic disorders which can be treated early.

Prenatal Testing – This type of genetic testing is performed during pregnancy to detect some types of abnormalities in a fetus’s genes or chromosomes before birth. Prenatal testing is used to screen two genetic disorders: down syndrome and trisomy 18 syndromes.

Preimplantation Testing – When you try to conceive a child through in- vitro fertilization, this test is used to screen embryos for genetic abnormalities. A few numbers of embryos cells are tested for certain genetic changes. Embryos without abnormalities are implanted in the uterus to initiate a pregnancy.

Carrier Testing – People who have a family genetic history or those in certain ethnic groups with an increased risk of the genetic disorder may have carrier testing before planning a child. Carrier testing can detect genes associated with a wide variety of genetic mutations and can determine if you or your partner are carriers for such conditions.

Predictive & Pre-symptomatic Testing – If you have a family history of a genetic disorder, this test can be helpful to identify mutations that increase your risk of developing genetic disorders. Pre-symptomatic testing can identify whether a person will develop a genetic disorder before any signs appear.

If you are pregnant or planning a baby, talk to the best doctors of family medicine in Brooklyn to get genetic testing. Schedule a consultation with the well-qualified family practice doctors of Artisans of Medicine today. With advanced testing procedures and techniques, we will help detect, prevent, treat or manage this disease.