[카테고리:] 블로그 (Blog)

📌 Clinician’s Note: Beyond Aneuploidies: Covering the 60% Single-Gene Risk Gap with Carriership & gNBS. [👉 Read Now: Bridging the 60% Genetic Risk Gap with gNBS] In the rapidly evolving landscape of prenatal care, Non-Invasive Prenatal Testing (NIPT) stands out as a beacon of progress. For expectant parents and healthcare providers alike, understanding the nuances…

The Importance of Reanalyzing Genetic Test Results for Rare Diseases Many companies providing diagnostic genetic testing offer reanalysis services “upon customer request.” But how important is this reanalysis? Let’s explore the significance of reanalysis in diagnostic genetic testing through the five-year reanalysis results conducted by 3billion. Common Questions About Reanalysis “Isn’t genetic testing a one-time…

Whether it is a WES/WGS test for clinical purposes or a DTC test from 23andme or Ancestry that provides ancestry information, a genetic test includes a final results report on what was tested. WES/WGS testing for rare disease diagnosis covers the entire exome or genome and serves the purpose of clinical diagnosis, which in turn…

희귀질환 유전자 검사에서 재분석이 중요한 이유 진단을 위한 유전자 검사를 제공하는 많은 회사가 ‘고객의 요청하에’ 재분석 서비스를 제공하고 있습니다. 그런데, 이 재분석은 얼마나 중요한 걸까요? 3billion에서 진행한 5년 간의 ‘매일 재분석’ 결과를 통해 진단용 유전자 검사에 있어서 ‘재분석의 중요성’에 대해 알아봅시다. “유전자 검사는 한 번만 하면 되는 것 아닌가요?” “왜 재검사가 왜 필요한가요?” “재검사랑 재분석은…

안녕하세요, 국내 1위의 희귀질환 진단을 돕는 유전자 검사를 제공하는 쓰리빌리언입니다. 오늘 파헤쳐 볼 희귀병은 비교적 많은 분들께 알려져 있는 다운증후군입니다. 다운증후군 요약 ​ 21번 염색체가 3개가 존재하는 대표적인 삼염색체증입니다. 즉, 다운증후군 환자의 대부분이 47개의 염색체를 가지고 있습니다. (정상 46개) 다운증후군 얼굴 특징 다운증후군은 신체 전반에 다양한 증상이 나타나는데, 특히 특이적인 얼굴 특징으로 구분이 가능합니다. ​…

In the realm of modern medicine, the landscape of diagnosis and disease management has been forever altered by the advent of genetic testing. From rare inherited disorders to complex multi-factorial diseases, genetic testing has emerged as a powerful tool that transcends boundaries and limitations. It is important to emphasize that the evolution of Next-Generation Sequencing (NGS)…

There are more than 7000 types of rare diseases that have been identified so far, and only about 5% of them have a treatment. However, recently, there has been a lot of interest in the pharmaceutical market for rare disease drug development. As of 2020, 58% of FDA-approved drugs are orphan disease treatments, and more…

Recently, various test methods using NGS technology (Panel Sequencing, WES, and WGS) are being utilized to diagnose rare genetic diseases. The test method is generally selected at the discretion of the physician upon evaluation of the patient’s symptoms. In the past, CMA (Chromosomal Microarray Analysis) and Sanger Sequencing have been recommended as first-tier tests. But…

The television series Extraordinary Attorney Woo streaming on Netflix has become a global box office hit. As proof of its success, it entered the All-time top 10 list of Non-English TV series on Netflix as of late August, 2022. Fig. 1. from: top10.netflix.com/tv-non-english Extraordinary Attorney Woo consists of a series of courtroom episodes surrounding the protagonist, who has…

Thalassemia is a rare genetic disease that reduces the production of hemoglobin, leading to anemia. When there is a lack of hemoglobin, the body’s red blood cell can’t function correctly and the periods of time last shorter. It causes less healthy red blood cells that carry oxygen to all cells of the body. What are…