minnesota newborn screening program

Glossary

On this page:
Assay
Case Specimen
Control Specimen
De-identified
False Positive
Genotype
Informed Consent
Isobutyryl-CoA Dehydrogenase Deficiency
Kit
MS/MS
Phenotype
Positive predictive value
Quality Control / Quality Assurance
Retrospective Study
Second-tier Test
Specificity
Wilson Disease

Glossary

Assay - This is another word for a test or an analysis that is done to determine the presence, absence, or quantity of a substance.

Case Specimen - In studies, this is the group of data or individuals of interest, i.e., the individuals who have the disease or have a positive test result.

Control Specimen - In studies, this is a set of reference data or specimens that are used to compare with the data or specimens being treated or examined. Control specimens help scientists know if the differences they see are truly because something is wrong or if they just happened by chance.

De-identified - De-identified specimens contain no information that can identify the individual and for which there is a reasonable basis to believe that the individual cannot be identified from the specimen. A specimen is considered de-identified if the following information is removed: name, geographic information (street address, city, county, zip code, etc.), birth dates, discharge dates, telephone and/or fax numbers, medical record numbers, any other unique identifying information.

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False Positive - This is a test result that indicates that a person has the disease when, in fact, they really do not have the disease. Since there is often an overlap between affected and unaffected individuals, false positive results occur when lab tests are designed never to miss any affected individuals.

Genotype - This is the genetic makeup of an organism, with reference to a single trait or set of traits.

Informed Consent - This is a patient’s consent to a medical or surgical procedure or to participation is a research study after being properly advised of the relevant medical facts and the risks involved.

Isobutyryl-CoA Dehydrogenase Deficiency - This is a rare disorder in which the body is unable to break down certain proteins. A child who has this disorder doesn’t have enough enzyme to break down proteins, so harmful toxins build up in the body and cause poor feeding and growth, seizures, heart problems.

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Kit - In the laboratory, this is a set of solutions/mixtures used for a specific purpose. For example, a kit may have all of the necessary solutions/mixtures to test for the disease, Galactosemia.

MS/MS - This is a name of an automated lab test also known as tandem mass spectrometry. Tandem mass spectrometry sorts and weighs molecules (much like sorting money) too see how much of each molecule is present. If there is too much or too little of a certain molecule, it can mean there is something wrong.

Phenotype - This is the appearance of an organism, i.e., how the disease appears in an individual, the person’s symptoms, etc.

Positive predictive value - This is a measure of how well a test correctly finds individuals who truly have the condition being checked for. It is the proportion of individuals with positive test results who are correctly diagnosed.

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Quality Control / Quality Assurance - This is a procedure or set of procedures to make sure that a service (such as laboratory testing) adheres to quality standards. Quality control in the laboratory is designed to detect, reduce, and correct deficiencies in the testing process to improve the overall quality of the results reported by the laboratory.

Retrospective Study - This is a study that looks backwards in time. For example, this type of study might look at individuals who already are known to have a disease to try to figure out why they have the disease.

Second-tier Test - This laboratory test is run only if the initial test comes back abnormal. Running two tests before reporting results helps confirm abnormal results and reduce false-positive results.

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Specificity - This is a measure of a test’s ability to correctly identify individuals who not have the disease. A test that is 100% specific would give negative results to all individuals who really do not have the disease and positive results to all individuals who do have the disorder. Given the amount of variability in people and in testing, it is very difficult for any lab test to be 100% specific.

Wilson Disease – This is an inherited disease that causes excessive amounts of copper to accumulate in the body. In this disease, copper builds up in the liver, brain, and eyes and can cause liver disease and nervous system problems. Wilson disease is not currently on the newborn screening panel. However, several projects are focusing on newborn screening for Wilson disease, so that children with this disease can have better outcomes and healthier lives.

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Updated Friday, 03-Dec-2010 19:47:33 CST
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