{"id":3092,"date":"2024-07-22T14:06:52","date_gmt":"2024-07-22T18:06:52","guid":{"rendered":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/?page_id=3092"},"modified":"2025-03-04T12:55:30","modified_gmt":"2025-03-04T17:55:30","slug":"genetic-counselor","status":"publish","type":"page","link":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/making-an-appointment\/genetic-counselor\/","title":{"rendered":"Genetic Counseling Services"},"content":{"rendered":"

What Does a Genetic Counselor Do?<\/h2>\n

A certified genetic counselor (GC) has specialized training in medical genetics and counseling to educate, guide, and support individuals and families affected by genetic conditions like MPS. At the Muenzer MPS Center, a dedicated GC is available to provide compassionate support at any stage of your MPS journey\u2014whether you\u2019re facing a new diagnosis or navigating different life stages. Our goal is to ensure you and your family leave the appointment feeling informed, supported, and confident in taking the next steps in managing MPS.<\/p>\n

GC services are tailored to meet each individual\u2019s and family\u2019s unique needs. A GC may assist with:<\/p>\n

Medical and Family History<\/span><\/h3>\n

To ensure we provide the most appropriate care for you and your family, it is helpful for our team to understand your unique health history with MPS and your main medical concerns. The genetic counselor (GC) will gather detailed information about your personal medical history, which may include the age of initial diagnosis, developmental history, symptoms or health complications, current specialists or medical providers, and specific interventions or therapies.<\/p>\n

Family history is also important in identifying relatives who may be at risk for MPS or could be carriers. The GC can offer guidance on genetic testing recommendations for family members and assist you in communicating this information to them.<\/p>\n

Diagnostic\/Genetic Testing<\/h3>\n

There are three main tests that are typically completed to confirm a diagnosis of MPS. One test measures enzyme activity and is often performed through a blood test. A second test measures glycosaminoglycans (GAGs), or complex sugar molecules, that is often performed on a urine sample but can be tested in blood as well. A third test is genetic or DNA testing that is often done through a blood or saliva sample. If any of these tests have been done, the GC can help you to better understand what the test results mean. If any of these tests have not been done, the GC will discuss these tests in more detail and determine the appropriate test(s) needed. The GC can also help coordinate testing during your visit to the MPS Center or provide recommendations to you or your family member\u2019s local provider.<\/p>\n

Education on MPS and Treatment Options<\/h3>\n

There are three main tests typically used to confirm a diagnosis of MPS. The first measures enzyme activity, usually through a blood test. The second measures glycosaminoglycans (GAGs), complex sugar molecules, often tested in a urine sample but sometimes in blood. The third is genetic or DNA testing, commonly performed using a blood or saliva sample.<\/p>\n

If any of these tests have already been completed, the genetic counselor (GC) can help you understand the results. If not, the GC will explain the tests in more detail and determine which are appropriate. The GC can also assist in coordinating testing during your visit to the MPS Center or provide recommendations for your or your family member\u2019s local provider.<\/p>\n

Navigating a Diagnosis and Life with MPS<\/h3>\n

Receiving an MPS diagnosis for yourself or a loved one can feel overwhelming. If you are not yet connected to patient advocacy groups or other resources to help you and your family navigate life with an MPS disorder, a genetic counselor (GC) can assist you. The GC can also provide psychosocial support\u2014addressing emotional, mental, and social needs\u2014for individuals and families affected by MPS and help connect you to additional supportive services and specialists.<\/p>\n

Family Planning Options<\/h3>\n

It’s understandable to experience a range of emotions about future pregnancies after receiving an MPS diagnosis. However, having a child with MPS does not mean you cannot have additional, unaffected children in the future. Depending on the specific type of MPS you or your child has been diagnosed with, a genetic counselor (GC) can help you better understand inheritance patterns, reproductive risks, and available family planning options. There are ways to significantly reduce the risk of having another child or family member affected by MPS, and the GC will explore all possibilities with you to ensure you and your family feel informed and empowered in your reproductive decision-making.<\/p>\n

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Our Genetic Counselor<\/h2>\n
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