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Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a … knowledge of genetics and an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … Genetic counseling refers to …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Each of the subtypes is based on the severity of the disorder and the age at which symptoms begin. There are three … When symptoms are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and … copies of the SMN2 gene can modify the course of SMA. Genetic testing on a blood or tissue sample is done to …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 … and identified in a familial Marfan patient(also known as genetic linkage to the gene). The FBN1 gene is the gene associated with the true Marfan syndrome. Genetic testing of the FBN1 gene identifies 70 - 93 percent …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and … Women often request noninvasive screening tests to detect genetic conditions. These tests, however, typically focus … reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. Bianchi, M.D., senior …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… body. Vitamin B12 deficiency states that are not due to genetic causes, such as vitamin B12 deficiency, can also … patients, high levels of ammonia. Without treatment, the disorder can lead to coma and death in some cases. This … of methylmalonic acidemia or cobalamin disorders visit a genetic counselor or physician who specializes in genetics …
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 mutation (genetic alteration) that results in thrombophilia, or an … a screening test called a coagulation screening test or by genetic testing (DNA analysis) of the F5 gene. … The …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… Carrier Screening … Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… Patients with genetic disorders and members of the public, both in the … germline genome editing should be used to prevent or treat genetic disorders. … Patients, patient advocates, and … in an effort to modify a gene that can cause the blood disorder beta thalassemia . The researchers only allowed the …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… have assembled answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and … science of pharmacogenomics. … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and … Disease, Genetic Disease, Genetic Condition, Genetic Disorder, Genetic Counseling, Genetic Testing, Rare Disease … …