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Genetic testing is performed at five different levels:
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Diagnostic purposes in individuals with symptoms. Testing is performed in many laboratory settings and the need for genetic counselling for the families is not always acknowledged.
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Presymptomatic diagnosis. In most cases the need for counselling is recognised, but as the testing is done in many different laboratory settings, problems connected with this kind of diagnosis are not acknowledged. A law concerning genetic integrity is expected to be enacted soon.
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Prenatal diagnosis. Information is usually provided by midwives and gynaecologists at the local or district hospital. Genetic counselling is often first provided by the doctor in the district hospital and not by a clinical geneticist. All pregnant women are given basic information and woman older than 35 years are given more extensive information concerning prenatal diagnosis.
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Pre-implantation diagnosis is performed in two centres and has so far resulted in four pregnancies. There is a strong governmental recommendation to use the method only in cases where the expected child will have a severe and deadly disease. The problems for doctors are the different indications for ordinary prenatal diagnosis and pre-implantation diagnosis.
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Screening for genetic defects is performed for PKU, galactosaemia, hyperthyroidism and the adrenogenitial syndrome.
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