Genetic testing

Genetic testing

Genetic testing can be performed at the National Amyloidosis Centre using a simple blood sample. It usually takes about 4 weeks till results are available. The test involves analysis of all the genes associated with the known forms of hereditary amyloidosis.

Genetic testing is usually offered to patients with amyloidosis that is suspected to be of hereditary type. The genetic test can enable doctors at the NAC to:

  • Confirm a diagnosis that has been made by analysis of the  proteins in the amyloid deposits.
  • Determine exactly what genetic mutation has led to the formation of the abnormal, amyloidogenic protein.
  • Gain more information regarding the likely course of disease, in some cases, as different mutations within the same gene are sometimes associated with different disease characteristics.

Healthy individuals with a family member suffering from hereditary systemic amyloidosis may be interested in evaluation of the chance that they themselves will develop the disease. This service is available at the NAC, but only after counselling with one of the physicians. This is important because the issue is not simple, and it is important to understand all the implications of the possible results before deciding whether or not to undergo the test. The NAC welcomes telephone queries on this subject.

The genetic tests can usually determine whether or not the amyloid causing mutation is present. However, even if a mutation is identified, this does not provide clear information about whether and when disease may develop. There are at present no treatments that will delay or prevent disease. The decision of whether or not to undergo testing is therefore a complicated and individual one, involving consideration of a number of psychological and practical issues.