GeneticsA branch of medicine concerned with disorders and diseases caused by abnormalities in genes and chromosomes.ABCDEFGHIJKLMNOPQRSTUVWXYZSkip List ContentAAdult Cystic FibrosisCystic fibrosis, an inherited disease, causes a buildup of thick mucus in the lungs. Early detection and better therapies help people live longer.BBirth DefectsBirth defects are health problems that are present at birth. They can range from mild to severe, and some babies have more than one.CChromosome MosaicismMosaicism is a condition that occurs when a person has two or more genetically separate sets of cells in his or her body.Clinical TrialsNew drugs and medical treatments need to go through a series tests called clinical trials. This is how new and better treatments are made possible.Cystic Fibrosis in ChildrenCystic fibrosis is a genetic disorder affecting mucous movement in the respiratory, digestive and reproductive systems. Learn about symptoms and treatment.Cytogenic Studies for Leukemia DiagnosisCytogenic Studies are precision medicine used to diagnose leukemia at a molecular level and determine treatment options.FFamilial hypercholesterolemiaFamilial hypercholesterolemia (FH) is a genetic disorder that causes abnormal buildup of LDL, or “bad“ cholesterol. Learn about symptoms and treatment.GGaucher DiseaseGaucher disease is a rare, inherited disorder that causes fatty substances to build up in the spleen, liver and other organs.Genetic Evaluation and CounselingGenetic evaluation and counseling involves a consultation that provides an individual's risk of acquiring inheritable conditions. Learn more about this service.HHereditary Hemorrhagic Telangiectasia (HHT)A genetic disorder of blood vessels that affects people of all ages and backgrounds.Huntington's DiseaseHuntington’s disease is a rare, inherited neurodegenerative condition that slowly and permanently robs a person’s physical and mental health.IInherited CancersAt your next large family gathering, talking about past cancer diagnoses throughout the family tree could provide valuable insight about possible risks of inherited cancers.LLynch syndromeLynch syndrome is an inherited genetic disorder linked to an increased risk of developing cancer, often at a younger age in life—especially colorectal cancer, and, for women, endometrial cancer.MMolecular DiagnosticsMolecular diagnostics involves analyzing DNA or RNA for red flags that can pinpoint the potential emergence of a specific disease.NNeurogeneticsNeurogenetics uses genome sequencing to understand the cause of brain and nerve disorders, such as Alzheimer's, ALS and many others.PPolycystic Kidney Disease (PKD)Polycystic kidney disease causes fluid-filled sacs called cysts to grow in the kidneys, which eventually harm the organs' function.WWhole Exome SequencingIf you have a health condition that is difficult to diagnose, or a family history of medical problems, your doctor might recommend exome sequencing for additional clues.Whole Genome SequencingWhole genome sequencing can search a person's entire DNA for genetic variants that may be linked to a disease or condition.
Adult Cystic FibrosisCystic fibrosis, an inherited disease, causes a buildup of thick mucus in the lungs. Early detection and better therapies help people live longer.
Birth DefectsBirth defects are health problems that are present at birth. They can range from mild to severe, and some babies have more than one.
Chromosome MosaicismMosaicism is a condition that occurs when a person has two or more genetically separate sets of cells in his or her body.
Clinical TrialsNew drugs and medical treatments need to go through a series tests called clinical trials. This is how new and better treatments are made possible.
Cystic Fibrosis in ChildrenCystic fibrosis is a genetic disorder affecting mucous movement in the respiratory, digestive and reproductive systems. Learn about symptoms and treatment.
Cytogenic Studies for Leukemia DiagnosisCytogenic Studies are precision medicine used to diagnose leukemia at a molecular level and determine treatment options.
Familial hypercholesterolemiaFamilial hypercholesterolemia (FH) is a genetic disorder that causes abnormal buildup of LDL, or “bad“ cholesterol. Learn about symptoms and treatment.
Gaucher DiseaseGaucher disease is a rare, inherited disorder that causes fatty substances to build up in the spleen, liver and other organs.
Genetic Evaluation and CounselingGenetic evaluation and counseling involves a consultation that provides an individual's risk of acquiring inheritable conditions. Learn more about this service.
Hereditary Hemorrhagic Telangiectasia (HHT)A genetic disorder of blood vessels that affects people of all ages and backgrounds.
Huntington's DiseaseHuntington’s disease is a rare, inherited neurodegenerative condition that slowly and permanently robs a person’s physical and mental health.
Inherited CancersAt your next large family gathering, talking about past cancer diagnoses throughout the family tree could provide valuable insight about possible risks of inherited cancers.
Lynch syndromeLynch syndrome is an inherited genetic disorder linked to an increased risk of developing cancer, often at a younger age in life—especially colorectal cancer, and, for women, endometrial cancer.
Molecular DiagnosticsMolecular diagnostics involves analyzing DNA or RNA for red flags that can pinpoint the potential emergence of a specific disease.
NeurogeneticsNeurogenetics uses genome sequencing to understand the cause of brain and nerve disorders, such as Alzheimer's, ALS and many others.
Polycystic Kidney Disease (PKD)Polycystic kidney disease causes fluid-filled sacs called cysts to grow in the kidneys, which eventually harm the organs' function.
Whole Exome SequencingIf you have a health condition that is difficult to diagnose, or a family history of medical problems, your doctor might recommend exome sequencing for additional clues.
Whole Genome SequencingWhole genome sequencing can search a person's entire DNA for genetic variants that may be linked to a disease or condition.