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Diagnostic Testing. Noelle Lewis Molecular Biology. Principles of Genetic testing. A genetic diagnostic test identifies a specific indicator that shows whether a person will have or develop a disorder Positive test results indicate a person has the indicator

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Presentation Transcript
diagnostic testing

Diagnostic Testing

Noelle Lewis

Molecular Biology

principles of genetic testing
Principles of Genetic testing
  • A genetic diagnostic test identifies a specific indicator that shows whether a person will have or develop a disorder
  • Positive test results indicate a person has the indicator
  • Negative test results indicate the indicator is absent
principles of genetic testing1
Principles of Genetic testing
  • False positives and negatives are common
  • A false positive could result in a person having unnecessary anxiety and often unnecessary treatment
  • A false negative could result in the person thinking they do not have the disease when they actually do
  • Clinical tests are adjusted to minimize the occurrence of false results
principles of genetic testing2
Principles of Genetic testing
  • Sensitivity and specificity are used to judge the clinical validity of a test
  • Sensitivity is the fraction of correctly identified people who truly have the indicator- TP

TP+FN

Specificity is the fraction of people who do not have the indicator- TN

TN+FP

A condition is likely present when a test is positive and specificity is high.

testing for genetic disorders
Testing for genetic disorders
  • A test used to identify an inherited disorder
  • The indicator may be a chromosome, protein, metabolite, or nucleic acid sequence
  • Chromosome abnormalities are detected by karyotype staining or fluorescent in situ hybridization (FISH).
  • Biochemical and immunological assays of blood and urine test amino acids, organic acids, and metabolites or proteins

-The Guthrie test-Phenylketonuria in infants

genetic testing
Genetic testing
  • Accumulation or deficiency of a metabolit can be detected by tandem mass spectromery
    • The m/z pofile is compared to known standards to identify and quantify the indicator
    • Tandem MS is efficient and can detect and measure the amounts of many different indicators
genetic testing1
Genetic testing
  • Other methods include assays that use the known human genetic sequence to identify mutations, single-strand conformation polymorphism, denaturing gradient gel electrophoresis, and denaturing high-performance liquid chromatography
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