For many people with rare or unexplained conditions, getting a clear diagnosis can take years. This long journey—often called the diagnostic odyssey—may involve multiple doctor visits, repeated tests, and lingering uncertainty. Advances in genetic testing are changing this, and whole genome sequencing (WGS) is emerging as one of the most…
Cardiac genetic testing is rapidly emerging as one of the most important tools in modern heart health care—especially for people with a family history of heart disease or unexplained cardiac problems. At its core, this type of testing looks at your DNA to identify specific gene changes that can increase…
Imagine going for a test to answer one simple question ‘why am I sick?‘ and discovering something entirely unexpected. That is what can happen in modern genomics. When doctors sequence a person’s DNA to look for the cause of a specific condition, they sometimes uncover incidental findings: genetic information that…
For decades, genetic testing followed a simple rule. If the first test did not provide an answer, the patient often had to undergo another test years later. New samples were collected, new panels were ordered, and families waited again. Today, that approach is changing. A single genome, sequenced once, can…
Hidden inside our DNA are many short sequences that repeat again and again, like stutters in the genetic code. Most of the time, these repeats are harmless. But when they grow too long, they can disrupt how genes work and trigger serious neurological and developmental diseases. These conditions, known as…
Inside almost every cell in your body lives a tiny power plant called the mitochondrion. These microscopic structures generate the energy that keeps your heart beating, your brain thinking, and your muscles moving. But mitochondria carry something even more surprising: their own DNA. This small but powerful genetic code is…
Preventive healthcare has traditionally relied on a simple approach: wait for symptoms, confirm a diagnosis, and then treat the disease. While this model has saved countless lives, it often detects illness only after damage has already begun. Whole Genome Sequencing (WGS) has the potential to change that approach by helping…
If you’ve been searching nonstop for answers about genetic testing, you’ve probably seen two options come up again and again: exome sequencing and genome sequencing. They sound similar, and both can be powerful tools -but they’re not the same, and choosing between them can feel overwhelming. Here’s a clear, simple…
Newborn screening is one of the most successful preventive health interventions, enabling early identification of select inherited disorders and timely treatment. However, traditional newborn screening relies on biochemical markers that reflect downstream effects of disease. These markers often become abnormal only after the disease process has begun, meaning some degree…
Genomic testing in clinical practice often involves a compromise between breadth and depth. Whole genome sequencing (WGS) offers the most comprehensive view of genetic variation but remains expensive and data-intensive for routine use. Whole exome sequencing (WES), on the other hand, provides deep coverage of coding regions where many disease-causing…
