[작성자:] Sookjin Lee
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Differential Diagnosis of Infantile Hypotonia: A Clinical Guide to Genetic Testing Integration
🎯Key Takeaways for Clinicians Introduction Infantile hypotonia, often referred to as “floppy infant syndrome,” presents a diagnostic challenge for even the most experienced pediatricians and neurologists. With an extensive range of potential etiologies—spanning from central nervous system disorders to peripheral neuromuscular diseases—the path to a definitive diagnosis can be arduous. In an era where early…
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The BEACONS Project: Why 746 Genes are Redefining Newborn Whole Genome Sequencing (WGS)
At a Glance: The BEACONS Project Executive Summary: What is the BEACONS Project? The BEACONS (Building Evidence and Collaboration for Genomics in Nationwide Newborn Screening) project is a pioneering U.S. initiative aimed at integrating Whole Genome Sequencing (WGS) into public health newborn screening. It focuses on 746 genes linked to 777 conditions that are clinically…
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How Much is a DNA Test? A Strategic Guide to Value and Costs
“Is a cheap DNA test always the right choice? Explore the factors that determine costs based on testing scope (WES, WGS) and use our checklist to find the right test for your needs.” When searching for the cost of a DNA test, you will encounter a wide range of prices, from as little as $50…
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Autism Spectrum Disorder: Which Genetic Test Does Your Child Actually Need?
If you’ve discovered that autism can be linked to genetic factors, the next natural question is: “How can I find the specific cause for my child?” With various testing options available, choosing the right one can be overwhelming. This guide simplifies the clinical path to help you secure the most accurate diagnosis and better plan…
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Beyond NIPT: Bridging the 60% Genetic Risk Gap with gNBS
Introduction: The Missing Piece in the NIPT Era Over the last decade, Non-Invasive Prenatal Testing (NIPT) has revolutionized prenatal care. While screening efficacy for major aneuploidies like T13, T18, and T21 now approaches 99%, a significant clinical gap remains. In practice, a vast majority of congenital anomalies are not caused by chromosomal numerical aberrations, but…
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NIPT ‘저위험군’이 간과하는 60%의 위험: de novo 변이와 gNBS
들어가며: NIPT 중심 시장, 우리가 놓치고 있는 것들 지난 10년간 산전 진단 시장은 NIPT(Non-Invasive Prenatal Testing)를 중심으로 비약적인 성장을 거듭해 왔습니다. T13, T18, T21 등 주요 염색체 이배체성(Aneuploidy)에 대한 선별률은 99%에 육박하지만, 정작 임상 현장에서 마주하는 희귀 질환 환아들의 상당수는 염색체 수적 이상이 아닌 단일 유전자 변이(Single Gene Variant)에 기인합니다. 단순히 염색체의 외형적 숫자를 세는…