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- Genetic conditions are not named in one standard way (unlike genes, which are given an official name and symbol by a formal committee). Doctors who treat families ...
- The PDHB gene provides instructions for making a protein called E1 beta. E1 beta is a piece (a subunit) of a larger protein: two E1 beta proteins combine ...
- Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a ...
- The PLG gene provides instructions for making a protein called plasminogen, which is produced in the liver. Enzymes called plasminogen activators convert ...
- Many types of genetic tests are available to analyze changes in genes, chromosomes, or proteins. A health care provider will consider several factors when ...
- The CLCN5 gene provides instructions for making a protein called ClC-5 that transports charged atoms (ions) across cell membranes. Specifically, ClC-5 exchanges ...
- Genetic testing can provide information about a person's genetic background. The uses of genetic testing include: Newborn screening Newborn screening is used ...
- The AKT1 gene provides instructions for making a protein called AKT1 kinase. This protein is found in various cell types throughout the body, where it plays ...
- Once a person decides to proceed with genetic testing, a health care provider can arrange testing. Genetic testing is often done as part of a genetic consultation . ...
- The ABCA3 gene provides instructions for making a protein involved in surfactant production. Surfactant is a mixture of certain fats (called phospholipids) ...
