BlogDiscover Insightful Articles on Rare Diseases

• All posts
• Insights
• Genetic test
• Rare disease series
• Diagnostic story
• Interview
• Product

• Rapid WGS for NICU Patients: When time determines survival, how fast can genomic diagnosis be?

  Genetic test | 26. 02. 27

• Key to Differential Diagnosis of hEDS vs. vEDS: Limitations of the Beighton Score and the Role of Genetic Testing

  Genetic test | 26. 02. 26

• 96 Patients Found New Answers Through Reanalysis of Genetic Testing: Feb 2026

  Genetic test | 26. 02. 25

• Beyond the Variant: Interpreting Genetic Diseases in the AI Era : Episode 2 — GNAS-Related Disorders

  Rare disease series | 26. 02. 25

• The Rare Disease Diagnostics Market: Beyond “Expansion” Toward a True Paradigm Shift

  Insights | 26. 02. 24

• Introducing Family Insight: A Family-Based Genomic Solution for Reproductive Challenges

  Product | 26. 02. 24

1. 1
2. 2
3. 3
4. 4
5. 5
6. 
7. 33
8.