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Does Whole Exome Sequencing (WES) include mitochondrial DNA (mtDNA)?
📍Key Takeaways Mitochondrial diseases are a group of genetic disorders that primarily affect the function of mitochondria, the energy-producing structures within cells. These disorders can arise from variants in either mitochondrial DNA or nuclear DNA. Variants in nuclear genes associated with mitochondrial function are often included in the targeted gene panels or exome sequencing tests…
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Can Genetic Test Results Vary for the Same Patient?
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…
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Gene Coverage in WES: The Hidden Gaps Clinicians Should Know
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…
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Panel vs Exome Testing: What’s the Difference and Which Should You Choose?
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…
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Can Exome Sequencing Detect CNVs?
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…
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How Much Does an Exome Test Cost in 2025?
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…