Sponsored, no-charge genetic testing in Australia for individuals at risk, or with, familial frontotemporal dementia(FTD)

Genetic testing for the progranulin gene associated with FTD may help you to:

  • Identify individuals and family members at risk for, or with, frontotemporal dementia 
  • Establish the likely genetic cause
  • Provide patients and families the knowledge that may facilitate participation in current or future clinical trials 

What is FTD?
FTD is a progressive, neurodegenerative condition. It is the most common cause of dementia under age 60 years. FTD generally impacts the parts of the brain involved with behavior, language and executive functioning (planning, organization). Other areas can be impacted, including memory and movement.

Progranulin Gene
Mutations in the progranulin gene have been identified in approximately 25% of people with a family history consistent with autosomal dominant FTD (i.e. multiple generations affected), and 3-5% of people without a family history. The vast majority of people who carry a progranulin gene mutation develop symptoms by age 80 years. Age range for symptoms can vary, both within and among families, with age of onset ranging from 35 to 87 years.
Why pursue genetic testing?
Genetic mutations have implications for both the individual being tested as well as their family members. For the individual, a progranulin gene mutation can confirm a diagnosis of familial FTD, establish the likely genetic cause, and provide an opportunity to participate in current or future clinical trials of potential therapies. Since genetic mutations are inherited, family members may also carry a progranulin gene mutation that puts them at risk to develop FTD in the future.

About the FindFTD program

Program eligibility

This program is available to individuals who live in Australia, are 18 years of age or older, and do not have a personal or family history of motor neuron disease. 
     
In addition, individuals must meet one of the following criteria below:
  • Clinical diagnosis of FTD, with a family history of dementia
  • Clinical diagnosis of FTD, with a familial pathogenic variant in the progranulin (GRN) gene
  • Individual does not have a clinical diagnosis of FTD, but has a family history of FTD of unknown genetic etiology
  • Individual does not have a clinical diagnosis of FTD, but has a family history of a familial pathogenic variant in the progranulin (GRN) gene

Initial program test

The FindFTD program offers testing with the single gene GRN test.

Once Invitae receives your patient’s blood, buccal, or saliva specimen, their results will be available in 10-21 calendar days.

Re-requisition panel

If the initial results come back negative, clinicians have the option to receive subsequent analysis by re-requisition to the broader Invitae Frontotemporal Dementia Panel, which analyzes up to 13 genes associated with frontotemporal dementia (FTD).

This subsequent analysis is offered at no additional charge if ordered within 90 days of the original report release. No new sample is required.

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place a paper-based order, download the paper order form and include it in the specimen box. 

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit by emailing apac@invitae.com and referencing the FTD program
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Next steps and additional services 

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Family variant testing for familial insights

If a positive result is identified, testing for your patient’s family members is available.

Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member.

LEARN MORE

Support every step of the way

Client Services

Available to answer your questions or help you through the testing process.

Clinical Support Services

Licensed, board-certified genetic counselors, ready to support you.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website.


About Alector

Alector, the Sponsor of this FTD genetic screening, is a clinical stage biotechnology company pioneering immuno-neurology, a novel therapeutic approach for the treatment of neurodegenerative diseases. Immuno-neurology targets immune dysfunction as a root cause of multiple pathologies that are drivers of degenerative brain disorders. Alector is developing and investigating a broad portfolio of programs designed to functionally repair genetic mutations that cause dysfunction of the brain’s immune system and enable the rejuvenated immune cells to counteract emerging brain pathologies. The Company’s investigational products are supported by biomarkers and target genetically defined patient populations in frontotemporal dementia and Alzheimer's Disease.

References

  1. Greaves and Rohrer Journal of Neurology (2019) 266:2075–2086.

  2. Gass et al. Hum Mol Genet. 2006 Oct 15;15(20):2988-3001.

  3. Gossye Front Neurosci. 2019; 13: 757.

  4. Takada Dement Neuropsychol 2015 September;9(3):219-229.