An Expert Guide to Major Types of Genetic Testing

Genetic testing is a great way to know your family’s health history. It can also be an essential tool for identifying potential genetic diseases before they develop, which leads to better treatment and prevention. In Winter Park, Florida, there are many types of genetic tests with different purposes, so it’s best to work with a Winter Park genetic testing expert who knows what you need and how to interpret the results. Here’s a guide to some of the most common genetic tests.

Newborn Screening

Newborn screening is a public health program that tests babies for various conditions shortly after birth. Most states in the U.S. require newborn screening, which usually includes a heel prick test to collect a few drops of blood. The specialist then analyzes the sample for certain genetic disorders, such as phenylketonuria (PKU) and cystic fibrosis.

Prenatal Testing

Prenatal testing diagnoses genetic disorders in a developing baby. During pregnancy, it can aim at checking for certain conditions, such as Down syndrome, Tay-Sachs disease, and sickle cell anemia. Prenatal testing happens through amniocentesis or chorionic villus sampling (CVS).

Amniocentesis takes place in the second trimester, after 15 weeks of pregnancy. A needle is inserted through the mother’s abdomen into the uterus to collect a small sample of amniotic fluid. The fluid contains cells from the developing baby that can be tested for genetic disorders.

CVS occurs in the first trimester, between 10 and 12 weeks of pregnancy. A needle is inserted through the mother’s abdomen or vagina into the uterus to collect a small tissue sample from the placenta. The tissue then goes under a genetic disorders test.

Preimplantation Genetic Diagnosis (PGD)

PGDs genetic testing takes place before an embryo is implanted in the uterus. It can test for congenital disorders that can be inheritable from the parents. PGD takes place in combination with in vitro fertilization (IVF).

During IVF, eggs are collected from the mother and fertilized with the father’s sperm in a lab. The embryos are then tested for specific genetic disorders. Only embryos free of the disorder are implanted in the mother’s uterus.

Genetic Carrier Testing

Genetic carrier testing can determine if a person is a carrier of a genetic disorder that can continue to their children. Carrier testing can happen for various conditions, such as cystic fibrosis and sickle cell anemia.

The test needs a blood or saliva sample. The DNA from the sample is analyzed for changes associated with the genetic disorder. If the test finds changes in the DNA, it means that the person is a carrier of the disease.

Genetic carrier testing is fundamental for people who have a family history of the disorder or plan to have children. It can also be done to check the baby’s risk of inheriting a genetic disease during pregnancy.

There are many different types of genetic testing, each with its purpose. It’s essential to work with an expert who can help you understand what you need and how to interpret the results. Newborn screening and prenatal testing are two standard genetic tests that can diagnose genetic disorders.

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