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Heterozygous carriers of cystic fibrosis can have a raised IRT and it is therefore not diagnostic in isolation. [2] IRT is measured in routine heel-prick blood taken for biochemical screening of all newborn infants born in the UK. This test is one of a number of completed in newborn screening (the "Guthrie Test").
The concentration of sodium in sweat is also elevated in cystic fibrosis. Unlike CFTR chloride channels, sodium channels behave perfectly normally in cystic fibrosis. However, in order for the secretion to be electrically neutral, positively charged sodium cations remain in the sweat along with the negatively charged chloride anions.
However, a small portion of patients with cystic fibrosis, especially those with "mild" mutations of the cystic fibrosis transmembrane regulator (CFTR) ion channel, have near-normal sweat tests. In these cases, a useful diagnostic adjunct involves measuring the nasal transepithelial potential difference (i.e. the charge on the respiratory ...
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Carrier testing is a type of genetic testing that is used to determine if a person is a carrier for specific autosomal recessive diseases. [1] This kind of testing is used most often by couples who are considering becoming pregnant to determine the risks of their child inheriting one of these genetic disorders.
FibroTest, known as FibroSure in the US, is a biomarker test that uses the results of six blood serum tests to generate a score that is correlated with the degree of liver damage in people with a variety of liver diseases. FibroTest has the same prognostic value as a liver biopsy.
Quantitative fecal fat tests measure and report an amount of fat. This is usually done over a period of three days, the patient collecting all of their feces into a container. The container is thoroughly mixed to homogenize the feces, without using specific mixer equipment. A small sample from the feces is collected.
Pulmonary function testing is a diagnostic and management tool used for a variety of reasons, such as: Diagnose lung disease. Monitor the effect of chronic diseases like asthma, chronic obstructive lung disease, or cystic fibrosis.