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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.
… bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading … some examples are listed below. IEM Examples Urea cycle disorders Ornithine transcarbamylase deficiency, … but they may also occur spontaneously. When discussing how genetic conditions are passed on in a family, it is important …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … performed on newborn babies to detect a wide variety of disorders. … 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 …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… believe that DS results from a disturbance - either by genetic or environmental factors - during embryonic … Most likely, both genetic and environmental factors play a role in the … (DS). For those cases that show evidence of having a genetic cause, both dominant and recessive forms of DS have …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Genetic Disorders …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… 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, Bone Disorders, FGFR3 Gene, Gene Mutation … Genetic Disorders …
Genetic Disorders
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 … in up to 98 percent of individuals who have hemophilia A. Genetic testing of the FIX gene finds disease-causing …
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. … the disorder from both parents. When both parents have the genetic defect, there's a 25 percent chance that each child … some parents may choose not to continue the pregnancy. Genetic counselors can help parents make these difficult …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Medline Plus: Phenylketonuria Children's PKU Network Genetic Testing Registry: Phenylketonuria GARD: … Genetic Disorders …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … When symptoms are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant … 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 …