Tests
A 17-hydroxyprogesterone test measures the amount of 17-hydroxyprogesterone (17-OHP) in a sample of your blood. 17-OHP is a substance that your adrenal glands make. Health care providers can use this test to help diagnose a group of uncommon genetic disorders that affect the adrenal glands. These genetic adrenal gland disorders are called congenital adrenal hyperplasia (CAH). Your adrenal glands are two small organs that sit on top of each kidney. They make different types of hormones , which are chemical messengers in your bloodstream that control the actions of certain cells or organs.
For everyone & professionals
Tests
An AFP test is a blood test that measures the level of alpha-fetoprotein (AFP) in your blood when you are pregnant. The test checks your baby's risk of having certain birth defects and genetic problems , but it does not diagnose any health conditions. The test is usually done between 15 and 20 weeks of pregnancy .
For everyone & professionals
Tests
A BCR-ABL1 genetic test uses a sample of blood or bone marrow to look for an abnormal gene called BCR-ABL1. This abnormal gene is found in certain types of blood cancer , such as chronic myeloid leukemia (CML).
For everyone & professionals
Tests
A BRAF genetic test uses a sample of tumor tissue, bone marrow, or blood to look for changes in a gene called BRAF . Changes in your genes are also called gene variants or mutations. The test is usually done to look for changes in the BRAF gene that may be involved in cancer .
For everyone & professionals
Tests
BRCA is short for "breast cancer gene." A BRCA genetic test uses a sample of your blood, saliva (spit), or cells from inside of your cheek to look for changes in your BRCA1 and BRCA2 genes. Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent. Genes carry information that controls what you look like and how your body works.
For everyone & professionals
Tests
A ceruloplasmin test measures the amount of ceruloplasmin in a sample of your blood. Your liver makes ceruloplasmin by attaching copper to a protein. Your liver releases the ceruloplasmin into your bloodstream so it can carry copper to the parts of your body that need it.
For everyone & professionals
Tests
A galactosemia test is a blood test given to newborns to check for a rare genetic metabolic disorder called galactosemia. Metabolic disorders affect metabolism, the process your body uses to make energy from the food you eat. Galactosemia can be inherited (passed down through families), but to have the condition, your baby has to receive the gene from both parents. Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent.
For everyone & professionals
Tests
An HIV viral load test measures the amount of HIV in a sample of your blood. HIV stands for human immunodeficiency virus. The test looks for genetic material from the virus in your blood. These tests are called molecular tests or nucleic acid amplification tests (NAAT or NAT). There are several types of NAAT tests. A PCR test is one type of NAAT that may be used to find HIV.
For everyone & professionals
Tests
A karyotype test is a type of genetic testing . It looks at the size, shape, and number of chromosomes in a sample of cells from your body. Chromosomes are tiny "packages" in your cells that contain your genes . Genes carry information, called DNA , that controls what you look like and how your body works.
For everyone & professionals
Tests
This test measures the amount of methylmalonic acid (MMA) in your blood or urine. MMA is a substance made in small amounts when you digest protein. MMA is needed for metabolism, which is the process that your body uses to change food into energy.
For everyone & professionals
Tests
An MTHFR gene test checks a sample of your blood for two very common changes in a gene called MTHFR . Changes in your genes are also called gene variants or mutations.
For everyone & professionals
Tests
PCR (polymerase chain reaction) tests are a reliable and accurate way to diagnose certain infectious diseases , some types of cancer , and certain genetic changes. The tests check for small amounts of genetic material of a pathogen (disease-causing organism) or abnormal cells in a sample of your blood, saliva, mucus, or tissue. The genetic material could be:
For everyone & professionals
