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 […]

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 […]

What is Flow FISH telomere testing?

Flow FISH telomere testing is a well-established process used for determining telomere length. In this blog we explore how it works and what the results can show us… What is Flow FISH and how does it work? Flow FISH is a telomere measurement technique that combines the use of fluorescent in situ hybridization (FISH) with […]

6-panel versus 2-panel telomere length tests

RepeatDx offers both 2- and 6-panel telomere length tests, here we’ll take a look at the differences and what you should consider when determining which test to order. Telomere length analysis has emerged as an important diagnostic and screening tool for a range of telomere maintenance conditions including: Dyskeratosis congenita Pulmonary fibrosis Bone marrow failure […]