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News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… explain up to 12% of the differences between two people’s blood pressure. … National Institutes of Health researchers … as genomic loci , that appear to influence a person’s blood pressure. Results of the study also point to several … Genetics , is one of the largest such genomic studies of blood pressure to date, including data from over 1 million …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Direct-to-Consumer Genetic Testing for Healthcare Professionals  What is direct-to-consumer genetic testing?  Direct-to-consumer genetic tests (DTC-GT) are … times. Testing is non-invasive and does not require a blood draw.  Consumers are not required to share their …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… ask you to share your medical records and will send you a blood collection kit so that you can mail us some blood samples.   How often will I have to come to the NIH? … received abnormal or non-reportable non-invasive prenatal testing (NIPT) results. had a follow-up test (an ultrasound …
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
Learn about the different types of hemoglobin.
… disease and gene therapy , you should first know about blood cells and the different types of hemoglobin that make up red blood cells. … Hemoglobin types and sickle cell disease  Your red blood cells contain hemoglobin , a protein that carries …
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.