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Genetic Testing in Scotland

Scottish Genetics Consortium
Genetic testing in Scotland is provided through the Scottish Molecular Genetics Consortium, which comproses the four Scottish Molecular Genetics Laboratories in Aberdeen, Dundee, Edinburgh and Glasgow. Clinical Geneticists (medical doctors who work with genetic patients) and genetic counsellors are available in each centre to help with pre-test counselling and interpretation of the results to the patient and to other medical practitioners.

Routine diagnostic tests
Many diagnostic genetic tests are available on a routine basis. Check with your local genetics department to find out whether a particular test is available before sending a sample.

Non-routine diagnostic tests
Tests for disorders which are not rountinely available may be available by special arrangement - you should discuss this with your local clinical genetics department . If a test is not routine, complete this form and send it with the sample to support your application to your local clinical genetics service to organise the test.

Predictive and carrier tests
Predictive testing can raise complex issues - consider referring the patient to a genetic clinic rather than sending a sample directly for DNA testing.
In some cases, carrier tests can raise similar issues, but in some circumstances carrier testing may be more straightforward. Check with your local genetics department for local policies.

Useful Forms

Clinical Utility Form - to request a non routine genetic test
Familial Cardiac Arrythmia Form - to request a genetic test for familial arrythmia or sudden cardiac death
Familial Hypercholesterolemia Form - to request a genetic test for familial hypercholesterolemia
North of Scotland DNA Consent Form - this form can be used to record consent for familial hypercholesterolemia or familial cardiac arrhythmia
New DNA test proposal form - to propose that a new genetic test be developed by the Scottish Consortium

Familial Cardiomyopathy Form - to request a genetic test for familial cardiomyopathy 

If you are in Scotland, blood samples can be sent to your local genetics laboratory (Aberdeen, Dundee, Edinburgh or Glasgow) regardless of where the test is done.

If you are outside Scotland, samples can be sent directly to the testing laboratory - please contact the laboratory to discuss testing first.


The Scottish Molecular Genetics Consortium is funded through the National Services Division of NHS National Services Scotland.

The Scottish Molecular Genetics Consortium Users Group

How does the consortium get medical advice about genetic testing? The Consortium Users Group is a group of clinical genetics professionals and a representative from the Genetic Interests Group which meets twice a year (in June and December) to review the range of genetic tests available in Scotland and make recommendations to the Consortium Steering Group. The Steering Group oversees the work of the four Scottish Genetics laboratories.


New genetic tests

The Users Group welcomes proposals from other medical professionals or patient groups for changes to the range of genetic tests available through the consortium.

If you are aware of a genetic test which is not currently provided and you wish to propose that this new genetic test should be mae available for the population of Scotland, please discuss this with your local genetics department first, and consider completing this form which should be returned to the Chairman of the Users Group, Department of Medical Genetics, Ashgrove House, Foresterhill, Aberdeen, AB25 2ZA by the end of April or the end of October.


Types of genetic test

A diagnostic genetic test is one undertaken because a diagnosis is suspected clinically in a patient. Most of these tests can be requested directly by a doctor, although for those which are very labour intensive or complex to interpret, you should discuss testing with a clinical geneticist first.

A predictive genetic test is one undertaken for a patient who is well, but has a family history of the disorder in question. These are most commonly performed for disorders such as Huntington's disease and cancer susceptibility. Testing for these disorders should be discussed with a clinical geneticist before taking any samples.

A carrier test is one undertaken for a condition where the patient is well, and will never develop the disorder themselves, but may transmit the disorder to their children in future. Examples are cystic fibrosis and fragile X syndrome. Cystic fibrosis carrier tests can be requested directly, but for most other disorders, discussion with a clinical geneticist is advisable before taking a sample. There are special guidelines which apply to carrier testing in children.

Please note that while diagnostic genetic tests can be requested directly by most doctors, carrier tests and predictive tests should normally be discussed with your local clinical genetics department.