What is being analysed?

PSEN1, or Presenilin-1, is a gene that encodes a protein involved in the production of beta-amyloid peptides. Mutations in the PSEN1 gene have been associated with early-onset Alzheimer's disease.

What does the result mean?

Analysis of PSEN1 helps in identifying mutations or alterations within the gene. Abnormalities in PSEN1 can indicate a predisposition to early-onset Alzheimer's disease.

Why do the analysis?

Analysing PSEN1 is crucial for assessing the risk of developing early-onset Alzheimer's disease, particularly in individuals with a family history of the condition.

When to do the analysis?

The analysis of PSEN1 is typically recommended for individuals with a family history of early-onset Alzheimer's disease or those exhibiting symptoms suggestive of the condition.

What sample is required?

A blood or saliva sample is usually sufficient for PSEN1 analysis. In some cases, a tissue sample may be required for more detailed genetic testing.

Is any type of prior preparation necessary?

No specific prior preparation is necessary for PSEN1 analysis. However, individuals may need to consult with a healthcare provider to understand the implications of the test results.

How is it used?

PSEN1 analysis is used to identify mutations or alterations within the gene that may increase the risk of developing early-onset Alzheimer's disease. This information can help in making informed decisions about healthcare management and future planning.

What are the normal values?

Normal values for PSEN1 analysis typically indicate the absence of mutations or alterations within the gene. However, it's essential to interpret the results in the context of an individual's family history and overall health.

What does it mean to have altered values?

Altered values in PSEN1 analysis suggest the presence of mutations or variations within the gene associated with early-onset Alzheimer's disease. Individuals with altered PSEN1 values may have an increased risk of developing the condition and may benefit from early intervention and monitoring.

Table: Summary of PSEN1 Analysis Results

This table summarises the interpretation of PSEN1 analysis results, distinguishing between normal and altered values and their implications for Alzheimer's disease risk.