PSEN1 genetic mutation analysis is used to screen asymptomatic or symptomatic adults who have a strong family history of early onset Alzheimer disease (EOFAD, also called Alzheimer disease type 3 or AD3), especially when a specific PSEN1mutation has been identified in other family members. It may be used to aid in the differential diagnosis of EOFAD versus other forms of early onset dementia but usually only in those with a family history of AD3. Appropriate genetic counseling may be pursued to assess the risk of either parent having and passing on a PSEN1 mutation. However, PSEN1 testing is rarely ordered prenatally because an amniocentesis is required and because it is not common practice to test prenatally for adult-onset diseases.
The PSEN1 test is not useful as a screen for the general population or for those who have late onset AD.
This test may be ordered when a person develops symptoms associated with Alzheimer disease before 65 years of age. PSEN1 mutation analysis may also be ordered when an asymptomatic adult has a strong family history of early onset Alzheimer disease, especially when there are multiple family members over several generations who have had or were thought to have had AD3.
Very rarely, PSEN1 testing may be ordered prenatally when there are documented affected family members and a specific PSEN1 gene mutation has been identified in a family member. It is not common practice to test prenatally or to test children for adult-onset diseases.
If a person has one of the PSEN1 mutations, it is highly likely that the person will eventually develop AD3, usually at a similar age to other affected family members. The penetrance of the gene (i.e., the symptoms, the severity, and the rate of progression) can vary from individual to individual. Since it is a dominant gene, each child will have a 50% chance of having the PSEN1 mutation passed on to them.
If the PSEN1 genetic mutation analysis is negative, it is still possible that the person has AD3 because the mutation is not able to be identified by the existing testing method and may be due to a different mutation of the PSEN1 gene or a mutation of another gene yet to be identified.
The PSEN1 genetic mutation is almost exclusively family-related and is not associated with late onset AD. A few cases of PSEN1 genetic mutation will show up without a strong family history because of "alternate" paternity, new mutations, or because a parent died before symptoms developed so this element of the family history was unknown.
The PSEN1 test is a relatively new, comparatively expensive test that has limited use and is still rarely ordered. It is performed in only a few laboratories, so if a health practitioner recommends the test, the blood sample will need to be sent to a reference laboratory and results may take awhile to return. As with many new testing modalities, the analysis may be costly and is often not covered under most insurance plans.
This article was last reviewed on March 14, 2014. | This article was last modified on March 26, 2014.
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