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Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… but they may also occur spontaneously. When discussing how genetic conditions are passed on in a family, it is important … history (how many relatives have been diagnosed with the disorder already and whether genetic testing has been performed in other relatives). In …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, Healthcare … tests performed on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a … newborn screening is mandatory for a defined set of genetic diseases, although the exact set differs from state …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Syndrome. In 70 percent of DS cases, this is the only disorder the individual has. However, other conditions and … believe that DS results from a disturbance - either by genetic or environmental factors - during embryonic …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between … an idiopathic (of unknown cause), chronic inflammatory disorder of the bowel, involves any region of the … Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Achondroplasia is a disorder of bone growth. It is the most common form of … or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene. Genetic testing can identify mutations in 99 percent of … Achondroplasia is a disorder of bone growth and the most common form of …
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. … have hemophilia B have low factor IX clotting activity. Genetic testing is also available for the factor VIII gene and the factor IX gene. Genetic testing of the FVIII gene finds a disease-causing …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is the most common inherited blood disorder in the United States. Approximately 100,000 … baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have the genetic defect, there's a 25 percent chance that each child …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood … Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood … Medline Plus: Phenylketonuria Children's PKU Network Genetic Testing Registry: Phenylketonuria GARD: …
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 …