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 […]
Tag: telomere biology disorders
Rare Disease Day 2020: Why we want to show our support
Now in its 12th year, Rare Disease Day will be celebrated globally on February 29 2020. Here we explain why we want to get involved, and how you can show your support! Rare Disease Day takes place on the last day of February each year. The main objective is to raise awareness amongst the general […]
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 […]
3 telomere testing myths to watch out for
As a relatively new and constantly advancing science, telomere biology is not yet fully understood. This is an exciting time for research in the field, with many opportunities for new discoveries. Although, in the meantime, with the lack of knowledge comes the risk of misunderstandings and telomere testing myths. Myth #1. Telomere length measurements can […]
What you need to know: insurance and telomere length testing
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 […]
Guest blog: Katie Stevens and Team Telomere
In this special guest blog Katie Stevens, Executive Director of Team Telomere, shares her story of learning about telomeres, telomere biology disorders and becoming a member of the powerful community she now plays a leading role in. Before October 2012, I had only heard telomeres casually mentioned in a biology class… maybe? Little did I […]
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 […]
Team Telomere launches inspiring new video
Team Telomere, in collaboration with RepeatDx, have just launched a brand-new video explaining telomere biology disorders. We are very pleased to be able to share with you the new Team Telomere video launched this week! The video runs through what telomeres are, what causes telomere biology disorders, what the symptoms can be and how they […]
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 […]