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What Should You Do If Your Patient Remains Undiagnosed After Exome Sequencing? Diagnosing patients with rare or undiagnosed conditions poses significant challenges for medical professionals. Medical professionals are left with many questions when initial genetic tests like Exome Sequencing (ES) do not yield precise results. This guide outlines three essential actions medical staff should take…

Next-generation sequencing has revolutionized genetic research by allowing for the rapid and cost-effective sequencing of entire genomes. This technological leap has not only facilitated initial gene discovery but also enabled continuous reanalysis of genetic data. The dynamic field of genetic medicine has greatly benefited from continuous reanalysis of genetic data, leading to the discovery of…

Rare diseases often present unique challenges in the medical field, not least of which is obtaining a timely and accurate diagnosis. For numerous patients and families, navigating the stages of the diagnostic odyssey to understand and manage a rare disease condition is marked by uncertainties, frequent misdiagnoses, and, often, prolonged years of seeking answers. However, the advent of genetic…

What is ClinVar? ClinVar is a public database operated by the U.S.A. National Institutes of Health (N.I.H.), in which information about variants associated with human phenotypic information is saved. Since the celebration of the submission of a million cases by 73 countries in 2019, as of Aug. 3rd, 2022, more than 2.3 million cases have…

Panel sequencing is being replaced In recent years, the use of genetic testing has become increasingly important in the diagnosis of rare diseases. With more than 7,000 rare diseases affecting over 400 million people worldwide, identifying the underlying genetic cause of these conditions can be a challenging task for clinicians. Panel sequencing has shown great…

The closure he needs: Genetically confirmed X-linked Agammaglobulinemia after 24-year wait We first saw Saravanan in our immunology clinic in 2021. Saravanan is a 40-year-old Indian man who was referred to us to establish a proper diagnosis for his underlying illness. He was initially managed by different doctors and later ended up without appropriate continuation…

Although in practice guidelines from the American College of Cardiology (ACC), American Heart Association (AHA), and Heart Rhythm Society recommend genetic testing for long QT syndrome, which causes ventricular arrhythmias, only 2.5% of patients receive it. Genetic Testing for Inherited Cardiovascular Disease Inherited Cardiovascular Disease is a group of genetic disorders that affect the heart and blood…

Many rare genetic diseases show similar symptoms. However, despite similar symptoms, the genetic cause may be different. Let us take a look into progressive muscular dystrophies for example. Progressive muscular dystrophy (PMD) is a genetic disease that leads to progressive weakness in the muscles. There are over 30 different types of dystrophy per genetic mutation,…

Introduction On the website of a company providing genetic testing for rare diseases, you can easily see “increases diagnostic yield by up to 20% compared to routine WES”1, “Approximately 30% diagnostic yield”2, “Detection rates range from about 28.8% to as high as 57.5% for this patient population”3.If you search for WES diagnosis yield on PubMed,…

There are several ways to perform genetic testing. The specific method used can depend on the type of genetic condition being tested for, the specific genes or genetic mutations being targeted, and the available resources. It’s important to note that genetic testing and diagnosis can be complex and may require multiple types of testing to…