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As next-generation sequencing (NGS) costs and analysis times continue to decrease, the technology has expanded its role in diagnosing rare genetic diseases. Annually, 250 gene-disease associations and > 9,000 variant-disease associations are reported, which continuously increase our understanding regarding genomes. While NGS panels are still widely used in clinical settings, the adoption of whole exome sequencing…

Early identification of developmental delay is important because it allows for early intervention and treatment. Research has shown that early intervention can improve outcomes for children with developmental delays, including improved cognitive and social skills, better school performance, and greater independence in daily activities. What is Developmental Delay? Developmental delay refers to significant delay or…

In many specialties, including pediatrics, CMA alone or a gene panel sequencing for a specific single gene or set of genes has been used as a preemptive genetic testing to diagnose rare genetic disorders. However, following this flow in all cases is not currently the most efficient or rational way for patients. Because exome and genome sequencing is…

Hypotonia, often known as floppy infant syndrome, is not just a medical term but a lived reality for many families. It signifies a condition characterized by reduced muscle tone, most easily identified in infants. It’s crucial to recognize that hypotonia isn’t a standalone illness but a symptom indicative of various underlying conditions. This distinction is…

Genetic testing for both clinical and recreational purposes has become more widely available in the past decade due to advances in sequencing technology. With the variety of testing options, it is becoming increasingly important to understand the implications and limitations specific to the type of genetic testing before proceeding. Whole exome sequencing (WES) has its advantages over…

If you or your loved one has undergone a Chromosomal Microarray Analysis (CMA), you might be feeling a mix of emotions – anticipation, concern, or even curiosity about what the results might reveal. It’s a journey that many embark on with hopes of gaining insights into genetic health. In the following article, we delve into…

In the context of clinical trials, a central lab and a local lab refer to different types of laboratories involved in the testing and analysis of samples collected from trial participants. Here are the key differences between the two: What is Central Lab What is Local Lab It’s important to note that the specific roles…

Ready to take the next step? Read our guide on [Which Genetic Test is Right for Your Child] Is autism hereditary? “There is no autism in my family!” When a child is diagnosed with autism, many parents wonder who they inherited it from. However, autism has many causes beyond genetics. In 1964, the American psychologist…

The genetic testing industry has been growing rapidly over the past decade. The global Next-Generation Sequencing market is expected to reach USD 7.37 billion in 2022 and is estimated to grow at a compound annual growth rate (CAGR) of 16.1% from 2022 to 2030. By increasing the genome sequencing programs, applications of NGS, and healthcare expenditure,…

The ability to diagnose diseases through genetic testing is getting better and better every day, but there are still some cases where it is difficult to actively utilize it in clinical practice for various reasons. Today, we’ll talk about one of them: genetic testing that isn’t covered by insurance. 3billion has a program to help…