Dementia is a general term that describes a wide range of symptoms associated with cognitive impairment that reduce the patient's ability to perform daily activities. Alzheimer's disease is the most common type of dementia, accounting for 60-80% of cases. There is currently no clear scientific evidence that there is a genetic cause underlying the development of dementias, but a number of genes have been described with known clinical association with Alzheimer's disease and dementias as a whole, including APP, APOE, C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2.
Complete exome
Sometimes, the complexity of the disease being studied, or the presentation of overlapping phenotypes in the patient, means that a genetic study cannot be limited to the analysis of a specific number of genes, but must opt for broader analyses that provide more information.
The Whole Exome study involves the sequencing of all coding genomic regions to obtain the maximum possible genetic information of the patient. From the sequencing of more than 20,000 genes, the genes to be studied can be sequentially selected according to the patient's phenotype. This approach provides several advantages:
- It allows to study in a targeted manner at first the set of genes related to the suspected disease.
- It gives the possibility to sequentially extend the study to a new set of genes in case of a negative or inconclusive result in the first approach.
- It allows reanalysis of new candidate genes associated with the pathology studied in the future without the need for re-sequencing, reducing turnaround time and associated costs.
Given the different options available, as with any genetic disease, in the case of dementias it will be essential, first of all, to receive appropriate advice from a qualified geneticist to assess each case individually.
At Dreamgenics, we perform the genetic study of different types of dementias within our Neurology genetic tests and our team of geneticists can take care of this genetic counseling consultation, if the patient wishes. If you want more information about this, you can contact us by calling 613 031 849 or sending an email to genetica@dreamgenics.com.