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Being heterozygous means you inherited two different versions (alleles) of a gene — one from each biological parent. For example, an A blood-type allele from one parent and a B allele from the other. This is a basic building block for understanding how traits are inherited. Whether it affects your health depends on the specific…

*Please note that as of the date of this post, 3B-NEO is not yet available in South Korea.  During pregnancy, NIPT is the gold standard for protecting your baby before birth. But what happens once your newborn finally arrives? In the first few days of life, hospitals perform routine physical checks and basic newborn blood…

Key Takeaways 📌 Series Introduction This series is authored by clinical genomics experts at 3billion. In an era where AI-driven variant prioritization tools have become ubiquitous, we focus on what interpreters must critically evaluate and decide after automated prioritization is complete. In each episode, we focus on a specific disease group, exploring both the underlying…

At a Glance When delayed walking (OR 15.96), receptive language impairment, borderline IQ, dysmorphic features, or motor delays are present, exome sequencing should be considered first.A landmark clinical study has finally answered a question families have been asking for years. The clinical genetic diagnostic yield for childhood motor speech disorders (CAS/dysarthria) is 29% — on…

📍Key Takeaways What Is EDS? Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders caused by defects in collagen synthesis or structure. Because connective tissue is distributed throughout the body — in joints, skin, blood vessels, and internal organs — symptoms can manifest across multiple organ systems simultaneously. The 2017 International EDS Classification…

📌 Series Introduction This series is authored by clinical genetics experts at 3billion. In an era where AI-driven variant prioritization has become commonplace, we focus on what interpreters truly need to understand and how they should exercise clinical judgment after automated tools have done their part. Each episode centers on a specific disease group, exploring…

📍Key Takeaways 1. Resolving Genetic Heterogeneity and Inheritance Uncertainty TCS is caused by mutations in TCOF1, POLR1B, POLR1C, or POLR1D. Genetic testing is essential to differentiate between autosomal dominant and recessive inheritance, resolving uncertainties that clinical observation alone cannot address. 2. Enhancing Accuracy in Recurrence Risk Counseling Misclassifying the inheritance pattern based solely on phenotype…