PSEN1 Test

Other names: Presenilin 1; PS1; S182; PS-1

The test is used to detect mutations in the PSEN1 gene; mutations can increase the risk of early onset familial Alzheimer’s disease. In most cases, Alzheimer’s affects people over the age of 60; however, in between 5 and 10 percent of cases, the condition affects people younger than this and this is known as early-onset Alzheimer’s. Most cases of early-onset Alzheimer’s are inherited, meaning that the condition runs in the family; this is caused by genetic mutation. So far, three genes have been identified but a mutation on the PSEN1 is the most common cause of inherited early onset Alzheimer’s.

PSEN1 is a dominant gene, which means only one copy is needed to cause inherited early onset Alzheimer’s disease.

When is the test used?

The test is not routinely used yet but it may be used a lot in the future. The test is used as a screening test for people with symptoms, as well as those without symptoms. It can be used to diagnose the condition early on, which can help treatment.

The test may be ordered when a patient has symptoms of early onset Alzheimer’s or has a strong family history of early onset Alzheimer’s.

How is the test done?

The test is done by taking a sample of blood from the patient’s arm; a needle in inserted into a vein in the arm and the blood is drawn out and collected in a syringe. When the doctor or nurse has a sufficient sample, the blood will be bottled, labelled with the patient’s name and sent off for testing.

What do the test results show?

If the test results show that the patient has a PSEN1 mutation, it is very likely that the patient will develop early onset Alzheimer’s disease. If the patient has a PSEN1 genetic mutation, it will mean that the patient’s children have a 50 percent chance of inheriting the condition.

Specific Blood Tests

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