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Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the United States. Approximately 100,000 … the hallmark trait of the disease. In more than 40 states, testing for the defective sickle cell gene is routinely …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … Factor V Leiden is the name of a specific … thrombophilia, or an increased tendency to form abnormal blood clots in blood vessels. People who have the factor V … test called a coagulation screening test or by genetic testing (DNA analysis) of the F5 gene. … The management of …
Fact Sheet
Currently, there are different gene therapy approaches available through clinical trials.
… Hemoglobin types and sickle cell disease  Your red blood cells contain hemoglobin , a protein that carries oxygen. Red blood cells need hemoglobin to deliver oxygen to your body’s organs and tissues. Every red blood cell contains thousands of hemoglobin molecules.  The …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves analyzing free … with a hereditary or genetic disorder. … Cell-free DNA testing is a laboratory method that involves analyzing free …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… Hemophilia is a bleeding disorder that slows down the blood clotting process. … People who have hemophilia often … People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who … hemophilia B have low factor IX clotting activity. Genetic testing is also available for the factor VIII gene and the …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… an unborn baby using a small sample of a pregnant mother's blood? Pregnancy can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with associated … of fetal DNA that naturally circulates in the mother's blood during pregnancy. Pregnant women now have the option of …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, … is actually a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, … whether to have a fetus tested for thalassemia. Prenatal testing can be done around the 11th week of pregnancy using …
Educational Resources
An antibody is a protein component of the immune system that circulates in the blood, recognizes foreign substances like bacteria and viruses, and neutralizes them.
… component of the immune system that circulates in the blood, recognizes foreign substances like bacteria and … and neutralizes them. … Immune System, Bacteria, Virus, Blood, Circulation, Disease, Antigen … An antibody is a … component of the immune system that circulates in the blood, recognizes foreign substances like bacteria and …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… an explosion in at-home, or "direct to consumer" genomic testing. You can even seek genomic information without … to learn more about yourself or your family through DNA testing - maybe you've seen ads on TV or heard them on the … radio. The global "direct-to-consumer" (or DTC) genomic testing market was valued at $117 million in 2017, suggesting …