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This test screens for mutations in 17 genes that can cause early onset dementia. The results from this screening test can aid in diagnosis, provide additional information to an already diagnosed patient and to identify potential risk genes causing dementia in the family.

About this test

Dementia is the collective name for a broad group of neurological syndromes that gradually affect memory, judgement and behaviour. Other common symptoms can include communication difficulties and emotional changes.

There are over 100 forms of dementia, the most well-known and common form is Alzheimer’s disease. 4 Although the symptoms can vary between each individual, the person affected will eventually require assistance and support with day to day activities.

Dementia can be divided into two major groups:

  • Early-onset Dementia (under the age of 65), and
  • Late-onset Dementia (older than 65 years)2,4

Even though both the early-onset and late-onset forms of Dementia have a genetic component, the inheritance pattern is complex in most patients and is likely to be caused by many various genetic and environmental factors. 2 The genetic background of dementia is therefore more complicated to interpret than in many other heritable diseases. For the early-onset forms of dementia, however, researchers have been able to localize a few gene mutations that can be inherited and cause the disease symptoms. 2,3

Early-onset familial dementia

Early-onset dementia (also called early-onset familial Alzheimer’s disease, or FAD) is inherited in an autosomal dominant manner, which means that it is caused by a mutation in a single gene, inherited from one of the parents. Which gene is affected can vary from case to case.

Genetic testing for patients that already have symptoms can be used to confirm the presence of a mutated gene associated with early-onset dementia. The affected person is typically a young or middle-aged patient with symptoms and with a family history of early-onset dementia. Testing can also be performed with patients who may have inherited a mutated gene that runs in the family.

Who should get tested?

This screening test is ideal for

  • individuals diagnosed with early onset dementia
  • individuals suspected to have early onset dementia
  • for those with a family history of the disease

How is testing performed at EasyDNA?

Our Alzheimer’s and Dementia screening test is based on cutting edge scientific research and technologies in the field of Dementia and Alzheimer’s Disease combined with genetic testing. It analyses 17 genes known to have mutations that can cause early onset dementia:

PRNP, PSEN1, PSEN2, APP, GRN, MAPT, TREM2, CHMP2B, CSF1R, FUS, ITM2B, NOTCH3, SERPINI1, TARDBP, TYROBP, VCP, SQSTM1.

This screening test requires a medical blood draw from which DNA is extracted. Our testing is performed using Massive Parallel Sequencing (Next Generation Sequencing), which allows sensitive mutation detection and analysis of coding regions of the genes.

Results

The results from this screening test can aid in diagnosis of Dementia or provide additional information to an already diagnosed patient. It can also be used to identify potential risk genes causing dementia in the family and to determine which relatives may be at risk.

Important:

The Alzheimer’s and Dementia screening panel requires genetic counselling from a certified professional and must be handled by a Doctor. Upon confirmation of your order we will send you an email with the Referral forms your doctor or counsellor will complete and return (Fax) to us for approval before your sample collection kit is sent out. The results will be sent directly to the doctor or counsellor who will then discuss them with you.

If you are a family member and/or would like to talk to a genetic counsellor, please contact our customer care team and they will help you to find a qualified professional for the test you are considering.

Your confirmation email will also include a recommendation for one of our affiliated Pathology Collection Centres close to you. We will arrange your appointment and book the courier to collect your samples after your appointment. Please note, EasyDNA do not cover the cost of your sample collection by the pathology.

Note: Your only additional cost will be the blood collection fee that should be arranged with the sample collector during your pathology appointment.

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