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If you’ve been researching your health and genetics, you may come across the terms genetic screening and genetic diagnostic testing. SequenceMD offers both services for our patients, and the two offerings have very different purposes.  What Is Genetic Screening? Genetic screening is a way to learn if you have an increased risk for certain genetic conditions. Think of it as a first step to see if there’s a reason to [...]

When children have intellectual and developmental disabilities (IDD), doctors often turn to genetic testing for answers. They trust that genetics can help them gather information and find a diagnosis. Unfortunately, the same can't be said for adults with similar conditions. Doctors rarely consider genetic evaluations for adults with IDD. Whether due to outdated clinical guidelines, limited awareness of adult testing benefits, or a lack of nearby clinical geneticists, genetic testing [...]

What are intellectual and developmental disabilities (IDDs)? Intellectual and Developmental Disabilities (IDDs) are a group of disorders that affect cognitive function and physical or neurological development. These conditions can impact how people learn, communicate, and perform everyday activities. People with IDDs may struggle with communication, social interactions, self-care (like dressing, eating, and hygiene), problem-solving, and following rules or routines. People may have challenges in a few or all of these [...]

If you have family members with cardiac issues, there may be underlying genetic factors you should know about. If the problems began at a young age or have another unusual factor, that’s an even bigger sign to pay attention. Even when a family member has been diagnosed, they may not have been evaluated to see if genetics is the cause. Yet, genetic conditions impact millions of people and numerous heart [...]

Nearly every baby born in the United States now undergoes genetic newborn screening. But did you know that those tests only cover a fraction of their genes?  Each state has distinct requirements, but these newborn tests typically cover 30 to 50 diseases. For some children, that testing is sufficient. However, humans have approximately 20,000 genes, and researchers estimate that over 10,000 genetic disorders exist. Essentially, newborn screening isn’t giving you [...]

It’s incredibly frustrating to leave a doctor’s office feeling like they didn’t listen or understand your concerns. You may feel disheartened, helpless or frustrated, especially when dealing with chronic symptoms or a condition that severely impacts your quality of life. If this sounds familiar, you’re not alone. If you don’t feel like your doctor is helping or listening to your needs, there are steps you can take to advocate for [...]