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28 April 2011

DNA testing: for which diseases?

DNA tests can be conducted to diagnose a range of heart- and blood vessel diseases or to determine the risk for developing these diseases.

DNA tests can be conducted to diagnose a range of heart- and blood vessel diseases or to determine the risk for developing these diseases. Certain types of cancer, iron overload and a collection of other hereditary genetic diseases can also be diagnosed in this manner.


  • Familial hypercholesterolaemia (FH, with a defective LDLR gene);
  • Familial defective apolipoprotein B-100 (defective ApoB gene);
  • Dyslipidaemia (ApoE gene);
  • Venous thrombosis;
  • Other risk factors, including elevated homocysteine levels and elevated iron levels.

It is very likely that adults with blood cholesterol levels above 7,5 mmol/litre have defective LDLR genes. The importance of genetic tests shouldn't be underestimated, especially if one takes into consideration that less than five percent of South Africans with familial hypercholesterolaemia have actually been diagnosed.

 
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