Guest blog: Mike shares his experience with dyskeratosis congenita for Rare Disease Day

Mike shares his story with dyskeratosis congenita to mark Rare Disease Day

To mark Rare Disease Day, we have a guest blog from Mike who is kindly willing to share his experience with familial dyskeratosis congenita.  Hello, my name is Mike and I have a rare disease. It is called Dyskeratosis Congenita (DC) and it runs in my family. My father and my uncle (his twin) had […]

Research Update: Flow FISH vs MM-qPCR telomere testing

Here we discuss the key findings and conclusions from a recently published study ‘Comparison of flow FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies’. Why test telomere length, and how? Telomere length testing is an important element in the diagnosis of dyskeratosis congenita (DC) and telomere biology disorders (TBDs) when assessing […]

Why is an accurate diagnosis so important and what role can telomere testing play?

Providing a correct and timely diagnosis can be challenging, especially for rare diseases. In this blog we address some key benefits of an accurate diagnosis for patients and their families. In some conditions, telomere testing may provide information to support this.   Making an accurate diagnosis can be challenging, particularly for physicians faced with rare diseases […]

Full circle from telomere research to clinic – and Repeat!

Geraldine Aubert, who is involved in telomere research

As Director of Clinical Development & Research at RepeatDx, Dr Geraldine Aubert is at the forefront of cutting-edge research partnerships. Here she explains the success of translational telomere research and the importance of striving to learn more. For many patients and sometimes family members, the diagnostic journey for suspected Telomere Biology Disorders (TBDs) involves several […]

What you need to know: insurance and telomere length testing

RepeatDx telomere testing insurance forms

Navigating insurance coverage for healthcare costs can be difficult, especially when dealing with less common conditions and tests. We’ve compiled some tips and resources to help when it comes to ordering telomere length testing.   For physicians supporting patients through diagnosis, it can be a complicated and lengthy process, especially in the case of rare […]