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Laboratory Services

Laboratory Services refer to the range of genetic testing that can be undertaken to diagnose a particular genetic condition or determine whether an individual is a "carrier" of a gene for a particular condition even though he/she may be unaffected themselves. It is now also possible to use genetic testing in the testing of some conditions to predict whether an individual will develop the particular condition later in life (presymptomatic testing).

There are several types of genetic testing including:

  • Biochemical genetic testing
  • Cytogenetic testing
  • Molecular genetic testing

Biochemical Genetic Testing

Biochemical genetic testing can identify errors in the body's metabolism or its chemical processes. Testing can be done either in pregnancy, or in the newborn period i.e. newborn screening, or later in life.

Cytogenetic Testing

This process is used to identify any changes in the usual number or structure of an individual's chromosomes and may aid in the diagnosis of a genetic disorder.

Molecular Genetic Testing

Type of genetic testing involves examination of the DNA of an individual to look for changes in genes (mutations) which may indicate a specific genetic disorder. Disorders can usually be routinely investigated at the DNA level in Australia or New Zealand.

DNA Banking

The DNA of an individual or family concerned about the genetic implications of an illness or condition which affects them, may be stored or "banked" for possible future use where there is no immediate prospect for genetic testing. Banking of DNA requires consent from the individual or their family and is done only in conjunction with medical genetic specialists for some specific genetic conditions.

The DNA is extracted from a sample of blood or tissue and is stored under special conditions in the laboratory for use when appropriate testing becomes available. While the DNA is stored in good faith for an indefinite time, no guarantee can be given that it will remain viable for testing.

For information on the availability of cytogenetic, molecular and biochemical testing, including genetic carrier and presymtomatic testing, please contact the local genetic counselling service.

This web page is managed and authorised by Centre for Genetics Education. Last updated: 21 October, 2009