[작성자:] cms3billion

Yes—even if the same patient takes the same exome sequencing test, the results can differ depending on several key factors. This might sound surprising, but it’s a reality in clinical genetics that many patients and healthcare providers are not aware of. Understanding why these differences occur is essential when choosing the best genetic testing lab…

When choosing a genetic testing method, many clinicians and researchers turn to Whole Exome Sequencing (WES) for its broad coverage and cost-efficiency. In a previous article, we explored the differences between targeted panels and WES, concluding that WES can (almost) encompass the scope of most NGS panels. But here comes the natural follow-up question: Does…

If you’ve ever wondered whether to order a genetic panel test or go straight for an exome, you’re not alone. One of the most common questions we get from clinicians is: “What’s the difference between NGS panel testing and exome sequencing?”“Can I find all panel genes in an exome test?” Here’s the one-line answer: Exome…

When a patient presents with symptoms suggestive of a rare genetic disorder, which diagnostic test comes to mind first? For many clinicians, chromosomal microarray (CMA) is still the go-to, especially for detecting copy number variants (CNVs). CNVs—defined as deletions or duplications of 50 base pairs or more—are implicated in approximately 10–15% of genetic disorders. CMA…

One of the most common questions in clinical genomics is: “What does an exome test actually cost?” The answer depends largely on what kind of exome test is being referred to, as the term often encompasses two very different types of servi Two Types of Exome Testing: Analytical vs. Diagnostic Why Do Exome Test Prices…

21년 3월부터 NGS 패널 검사의 본인 부담금이 50%로 적용 되다가, 23년 12월 이후 80%로 상향되어 평균 100~160만원의 비용을 환자들이 부담하고 있습니다. 선생님들이 마주하는 환자들 중 검사가 꼭 필요하나 비용 부담으로 주저하고 있는 경우는 없으신가요?  최근 쓰리빌리언은 정부, 환우회, 제약사, 학회 등 다양한 협력을 통해 유전자 검사 지원 사업을 함께 진행하고 있습니다.   검사 지원이 필요한 환자가…

희귀질환 환자의 초기 평균 진단율 35%,  65% 환자는 초기 진단에 실패합니다.  초기 진단에 실패한 환자들의 다음 단계를 어떻게 안내하고 계신가요?다른 검사를 제안하시거나, 아니면 비용 부담으로 경과를 지켜만 보고 계시나요?  희귀질환 진단을 위해서 엑솜까지 했는데 1번만 분석하는 건 너무 큰 낭비입니다.  1) 매년 300여개의 새로운 질병 – 변이가 등록되고 2) 환자의 증상도 변하고 3) 분석 알고리즘도…