Genetic testing for common recessive disorders likely to be requested from GPs

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GENETIC MEDICINE

Genetic testing for common recessive disorders likely to be requested from GPs

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Guest writer

Pregnancy test
Sarah’s partner never got around to having the CF mutation blood test

Cystic fibrosis gene mutations are used here to illustrate how carrier testing is applied (including to wider family), the role of general practice, assessing couples’ risks of having an affected child and the options available to families with an affected relative

Genetic testing in New Zealand is most often car­ried out after the patient is seen by a clinical genet­icist or genetic counsellor within the Genetic