Medical test

Last updated
Medical test
X-ray by Wilhelm Rontgen of Albert von Kolliker's hand - 18960123-02.jpg
X-ray of a hand. X-rays are a common medical test.
MeSH D019937

A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic testing, chemical and cellular analysis, relating to clinical chemistry and molecular diagnostics, are typically performed in a medical setting.


Types of tests

By purpose

Medical tests can be classified by their purposes, the most common of which are diagnosis, screening and evaluation.[ citation needed ]


Lung scintigraphy evaluating lung cancer Lung scintigraphy keosys.JPG
Lung scintigraphy evaluating lung cancer

A diagnostic test is a procedure performed to confirm or determine the presence of disease in an individual suspected of having a disease, usually following the report of symptoms, or based on other medical test results. [1] [2] This includes posthumous diagnosis. Examples of such tests are:


Screening refers to a medical test or series of tests used to detect or predict the presence of disease in at risk individuals within a defined group such as a population, family, or workforce. [4] [5] Screenings may be performed to monitor disease prevalence, manage epidemiology, aid in prevention, or strictly for statistical purposes. [6]

Examples of screenings include measuring the level of TSH in the blood of a newborn infant as part of newborn screening for congenital hypothyroidism, [7] checking for Lung cancer in non-smoking individuals who are exposed to second-hand smoke in an unregulated working environment, and Pap smear screening for prevention or early detection of cervical cancer.[ citation needed ]


Some medical tests are used to monitor the progress of, or response to medical treatment.

By method

Most test methods can be classified into one of the following broad groups:

By sample location

In vitro tests can be classified according to the location of the sample being tested, including:

Accuracy and precision

Detection and quantification

Tests performed in a physical examination are usually aimed at detecting a symptom or sign, and in these cases, a test that detects a symptom or sign is designated a positive test, and a test that indicated absence of a symptom or sign is designated a negative test, as further detailed in a separate section below.A quantification of a target substance, a cell type or another specific entity is a common output of, for example, most blood tests. This is not only answering if a target entity is present or absent, but also how much is present. In blood tests, the quantification is relatively well specified, such as given in mass concentration, while most other tests may be quantifications as well although less specified, such as a sign of being "very pale" rather than "slightly pale". Similarly, radiologic images are technically quantifications of radiologic opacity of tissues.[ citation needed ]

Especially in the taking of a medical history, there is no clear limit between a detecting or quantifying test versus rather descriptive information of an individual. For example, questions regarding the occupation or social life of an individual may be regarded as tests that can be regarded as positive or negative for the presence of various risk factors, or they may be regarded as "merely" descriptive, although the latter may be at least as clinically important.[ citation needed ]

Positive or negative

The result of a test aimed at detection of an entity may be positive or negative: this has nothing to do with a bad prognosis, but rather means that the test worked or not, and a certain parameter that was evaluated was present or not. For example, a negative screening test for breast cancer means that no sign of breast cancer could be found (which is in fact very positive for the patient).[ citation needed ]

The classification of tests into either positive or negative gives a binary classification, with resultant ability to perform bayesian probability and performance metrics of tests, including calculations of sensitivity and specificity.[ citation needed ]

Continuous values

Tests whose results are of continuous values, such as most blood values, can be interpreted as they are, or they can be converted to a binary ones by defining a cutoff value, with test results being designated as positive or negative depending on whether the resultant value is higher or lower than the cutoff.


In the finding of a pathognomonic sign or symptom it is almost certain that the target condition is present, and in the absence of finding a sine qua non sign or symptom it is almost certain that the target condition is absent. In reality, however, the subjective probability of the presence of a condition is never exactly 100% or 0%, so tests are rather aimed at estimating a post-test probability of a condition or other entity.

Most diagnostic tests basically use a reference group to establish performance data such as predictive values, likelihood ratios and relative risks, which are then used to interpret the post-test probability for an individual.

In monitoring tests of an individual, the test results from previous tests on that individual may be used as a reference to interpret subsequent tests.


Some medical testing procedures have associated health risks, and even require general anesthesia, such as the mediastinoscopy. [14] Other tests, such as the blood test or pap smear have little to no direct risks. [15] Medical tests may also have indirect risks, such as the stress of testing, and riskier tests may be required as follow-up for a (potentially) false positive test result. Consult the health care provider (including physicians, physician assistants, and nurse practitioners) prescribing any test for further information.


Each test has its own indications and contraindications. An indication is a valid medical reason to perform the test. A contraindication is a valid medical reason not to perform the test. For example, a basic cholesterol test may be indicated (medically appropriate) for a middle-aged person. However, if the same test was performed on that person very recently, then the existence of the previous test is a contraindication for the test (a medically valid reason to not perform it).

Information bias is the cognitive bias that causes healthcare providers to order tests that produce information that they do not realistically expect or intend to use for the purpose of making a medical decision. Medical tests are indicated when the information they produce will be used. For example, a screening mammogram is not indicated (not medically appropriate) for a woman who is dying, because even if breast cancer is found, she will die before any cancer treatment could begin.

In a simplified fashion, how much a test is indicated for an individual depends largely on its net benefit for that individual. Tests are chosen when the expected benefit is greater than the expected harm. The net benefit may roughly be estimated by:

, where:

Some additional factors that influence a decision whether a medical test should be performed or not included: cost of the test, availability of additional tests, potential interference with subsequent test (such as an abdominal palpation potentially inducing intestinal activity whose sounds interfere with a subsequent abdominal auscultation), time taken for the test or other practical or administrative aspects. The possible benefits of a diagnostic test may also be weighed against the costs of unnecessary tests and resulting unnecessary follow-up and possibly even unnecessary treatment of incidental findings. [16]

In some cases, tests being performed are expected to have no benefit for the individual being tested. Instead, the results may be useful for the establishment of statistics in order to improve health care for other individuals. Patients may give informed consent to undergo medical tests that will benefit other people.

Patient expectations

In addition to considerations of the nature of medical testing noted above, other realities can lead to misconceptions and unjustified expectations among patients. These include: Different labs have different normal reference ranges; slightly different values will result from repeating a test; "normal" is defined by a spectrum along a bell curve resulting from the testing of a population, not by "rational, science-based, physiological principles"; sometimes tests are used in the hope of turning something up to give the doctor a clue as to the nature of a given condition; and imaging tests are subject to fallible human interpretation and can show "incidentalomas", most of which "are benign, will never cause symptoms, and do not require further evaluation," although clinicians are developing guidelines for deciding when to pursue diagnoses of incidentalomas. [17]

Standard for the reporting and assessment

The QUADAS-2 revision is available. [18]

List of medical tests

See also

Related Research Articles

Genetic testing Medical test

Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.

Diagnosis of HIV/AIDS Immunological test

HIV tests are used to detect the presence of the human immunodeficiency virus (HIV), the virus that causes acquired immunodeficiency syndrome (AIDS), in serum, saliva, or urine. Such tests may detect antibodies, antigens, or RNA.

Signs and symptoms Indications of a medical fact or characteristic

Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showing on a medical scan. A symptom is something out of the ordinary that is experienced by an individual such as feeling feverish, a headache or other pain or pains in the body.

Physical examination Process by which a medical professional investigates the body of a patient for signs of disease

In a physical examination, medical examination, or clinical examination, a medical practitioner examines a patient for any possible medical signs or symptoms of a medical condition. It generally consists of a series of questions about the patient's medical history followed by an examination based on the reported symptoms. Together, the medical history and the physical examination help to determine a diagnosis and devise the treatment plan. These data then become part of the medical record.

In healthcare, a differential diagnosis is a method of analysis of a patient's history and physical examination to arrive at the correct diagnosis. It involves distinguishing a particular disease or condition from others that present with similar clinical features. Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient, or, at least, to consider any imminently life-threatening conditions. Often, each individual option of a possible disease is called a differential diagnosis.

Screening (medicine) Brief medical evaluation to detect unnoticed health problems

Screening, in medicine, is a strategy used to look for as-yet-unrecognised conditions or risk markers. This testing can be applied to individuals or to a whole population. The people tested may not exhibit any signs or symptoms of a disease, or they might exhibit only one or two symptoms, which by themselves do not indicate a definitive diagnosis.

Overdiagnosis is the diagnosis of disease that will never cause symptoms or death during a patient's ordinarily expected lifetime and thus presents no practical threat regardless of being pathologic. Overdiagnosis is a side effect of screening for early forms of disease. Although screening saves lives in some cases, in others it may turn people into patients unnecessarily and may lead to treatments that do no good and perhaps do harm. Given the tremendous variability that is normal in biology, it is inherent that the more one screens, the more incidental findings will generally be found. For a large percentage of them, the most appropriate medical response is to recognize them as something that does not require intervention; but determining which action a particular finding warrants can be very difficult, whether because the differential diagnosis is uncertain or because the risk ratio is uncertain.

In medicine, a biomarker is a measurable indicator of the severity or presence of some disease state. More generally a biomarker is anything that can be used as an indicator of a particular disease state or some other physiological state of an organism. According to the WHO, the indicator may be chemical, physical, or biological in nature - and the measurement may be functional, physiological, biochemical, cellular, or molecular.

Sensitivity and specificity Statistical measures of the performance of a binary classification test

Sensitivity and specificity mathematically describe the accuracy of a test which reports the presence or absence of a condition. Individuals for which the condition is satisfied are considered "positive" and those for which it is not are considered "negative".

In statistical hypothesis testing, a type I error is the mistaken rejection of an actually true null hypothesis, while a type II error is the failure to reject a null hypothesis that is actually false. Much of statistical theory revolves around the minimization of one or both of these errors, though the complete elimination of either is a statistical impossibility if the outcome is not determined by a known, observable causal process. By selecting a low threshold (cut-off) value and modifying the alpha (α) level, the quality of the hypothesis test can be increased. The knowledge of type I errors and type II errors is widely used in medical science, biometrics and computer science.

Predictive medicine is a field of medicine that entails predicting the probability of disease and instituting preventive measures in order to either prevent the disease altogether or significantly decrease its impact upon the patient.

Point-of-care testing is defined as medical diagnostic testing at or near the point of care—that is, at the time and place of patient care. This contrasts with the historical pattern in which testing was wholly or mostly confined to the medical laboratory, which entailed sending off specimens away from the point of care and then waiting hours or days to learn the results, during which time care must continue without the desired information.

Interferon-gamma release assays (IGRAs) are diagnostic tools for latent tuberculosis infection (LTBI). They are surrogate markers of Mycobacterium tuberculosis infection and indicate a cellular immune response to M. tuberculosis if the latter is present.

Workplace health surveillance or occupational health surveillance (U.S.) is the ongoing systematic collection, analysis, and dissemination of exposure and health data on groups of workers. The Joint ILO/WHO Committee on Occupational Health at its 12th Session in 1995 defined an occupational health surveillance system as "a system which includes a functional capacity for data collection, analysis and dissemination linked to occupational health programmes".

A psychiatric assessment, or psychological screening, is the process of gathering information about a person within a psychiatric service, with the purpose of making a diagnosis. The assessment is usually the first stage of a treatment process, but psychiatric assessments may also be used for various legal purposes. The assessment includes social and biographical information, direct observations, and data from specific psychological tests. It is typically carried out by a psychiatrist, but it can be a multi-disciplinary process involving nurses, psychologists, occupational therapist, social workers, and licensed professional counselors.

Medical diagnosis Process to identify a disease or disorder

Medical diagnosis is the process of determining which disease or condition explains a person's symptoms and signs. It is most often referred to as diagnosis with the medical context being implicit. The information required for diagnosis is typically collected from a history and physical examination of the person seeking medical care. Often, one or more diagnostic procedures, such as medical tests, are also done during the process. Sometimes posthumous diagnosis is considered a kind of medical diagnosis.

Cancer screening Method to detect cancer

Cancer screening aims to detect cancer before symptoms appear. This may involve blood tests, urine tests, DNA tests, other tests, or medical imaging. The benefits of screening in terms of cancer prevention, early detection and subsequent treatment must be weighed against any harms.

Pre-test probability and post-test probability are the probabilities of the presence of a condition before and after a diagnostic test, respectively. Post-test probability, in turn, can be positive or negative, depending on whether the test falls out as a positive test or a negative test, respectively. In some cases, it is used for the probability of developing the condition of interest in the future.

Monitoring (medicine) Observation of a disease, condition or one or several medical parameters over time

In medicine, monitoring is the observation of a disease, condition or one or several medical parameters over time.

Overscreening, also called unnecessary screening, is the performance of medical screening without a medical indication to do so. Screening is a medical test in a healthy person who is showing no symptoms of a disease and is intended to detect a disease so that a person may prepare to respond to it. Screening is indicated in people who have some threshold risk for getting a disease, but is not indicated in people who are unlikely to develop a disease. Overscreening is a type of unnecessary health care.


  1. 1 2 Al-Gwaiz LA, Babay HH (2007). "The diagnostic value of absolute neutrophil count, band count and morphological changes of neutrophils in predicting bacterial infections". Med Princ Pract. 16 (5): 344–347. doi: 10.1159/000104806 . PMID   17709921.
  2. Archived 2014-12-23 at the Wayback Machine
    Guide to Diagnostic Tests from Harvard Health
  3. "". Archived from the original on 2017-06-18. Retrieved 2016-11-07.
  4. Ratcliffe JM, Halperin WE, Frazier TM, Sundin DS, Delaney L, Hornung RW (1986). "The prevalence of screening: a report from the National Institute of Occupational Safety and the Health National Occupational Hazard Survey". Journal of Occupational Medicine. 28 (10): 906–912. doi:10.1097/00043764-198610000-00003. PMID   3021937. Archived from the original on 2021-10-20. Retrieved 2019-09-16.
  5. Archived 2020-08-10 at the Wayback Machine
    US Dept. of Labor - Occupational Safety and Health Admin.
  6. Murthy LI, Halperin WE (1995). "Medical Screening and Biological Monitoring: A guide to the literature for physicians". Journal of Occupational and Environmental Medicine. 37 (2): 170–184. doi:10.1097/00043764-199502000-00016. PMID   7655958. S2CID   24916505. Archived from the original on 2021-10-20. Retrieved 2020-09-08.
  7. Moltz KC, Postellon DC (1994). "Congenital hypothyroidism and mental development". Comprehensive Therapy . 20 (6): 342–346. PMID   8062543.
  8. OSA | Design of a high-sensor count fibre optic manometry catheter for in-vivo colonic diagnostics
  9. "Directive 98/79/CE on in vitro diagnostic medical devices". Archived from the original on 2021-10-21. Retrieved 2013-10-10.
  10. "In Vitro Diagnostic (IVD) tests". European Diagnostic Manufacturers Association. Archived from the original on 23 April 2009.
  11. "Glucose Tests". Lab Tests Online UK. 14 November 2019. Archived from the original on 11 December 2011. Retrieved 10 October 2013.
  12. 1 2 "Liver Function Tests". Lab Tests Online UK. 10 January 2020. Archived from the original on 5 December 2011. Retrieved 10 October 2013.
  13. "Electrolytes and Anion Gap". Lab Tests Online UK. 9 October 2019. Archived from the original on 27 November 2011. Retrieved 10 October 2013.
  14. "Mediastinoscopy". Harvard Health. October 2016. Archived from the original on 6 October 2014.
  15. Diagnostic Tests > Pap Smear, Harvard University, archived from the original on June 8, 2007
  16. Jarvik J, Hollingworth W, Martin B, Emerson S, Gray D, Overman S, Robinson D, Staiger T, Wessbecher F, Sullivan S, Kreuter W, Deyo R (2003). "Rapid magnetic resonance imaging vs radiographs for patients with low back pain: a randomized controlled trial". JAMA. 289 (21): 2810–8. doi: 10.1001/jama.289.21.2810 . PMID   12783911.
  17. Hall, Harriet (2019). "Too Many Medical Tests". Skeptical Inquirer . 43 (3): 25–27.
  18. Whiting PF, Rutjes AW, Westwood ME, Mallett S, Deeks JJ, Reitsma JB, Leeflang MM, Sterne JA, Bossuyt PM, et al. (QUADAS-2 Group) (October 2011). "QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies". Annals of Internal Medicine. 155 (8): 529–36. doi: 10.7326/0003-4819-155-8-201110180-00009 . PMID   22007046.

Further reading