Genetic Testing

How do I get the DNA test for HSPB8 Myopathy? 

Please talk to your doctor if you are interested in learning more about genetic testing for HSPB8.  You may also wish to see a geneticist or genetic counselor, professionals who specialize in hereditary conditions, coordinating genetic tests, as well as explaining genetics, genetic testing, and the implications of genetic test results. The test uses saliva sample, and the results are av ailable in about 3 weeks.  

 There are a few different ways that your doctor can order the HSPB8 test. There are tests that look in specific sections of HSPB8 where known mutations have previously been found or there is a test of the entire HSPB8 gene or panel of genes. Please talk to your doctor about which of the tests are best for you or your family member. 

How does DNA testing work? 

The HSPB8 gene is tested by comparing it with a known “normal” gene to identify genetic changes that might lead to disease. The test uses DNA typically from a saliva sample or blood sample (less than 1 tablespoon of blood).  

 There are two reasons that a doctor might order the DNA test.  

  •  First, DNA testing can confirm a diagnosis of HSPB8 Myopathy for someone who has symptoms.   

  •  Second, DNA testing may also be used by people with a family history of HSPB8 Myopathy who do not have symptoms and want to find out whether they might develop the disease in the future. If possible, it is best to first test a family member with the symptoms of HSPB8 Myopathy.  If the mutation that runs in a family is then known, carrier testing for other family members is much easier, less expensive, and the results are more meaningful.  

 If you have questions about whether genetic testing is right for you or your family members, please make an appointment with a geneticist or genetic counselor. These are professionals who specialize in inherited conditions and coordinating genetic tests. They are trained to explain genetics, genetic testing, and the implications of genetic test results. 

What is the purpose of HSPB8 DNA testing? 

HSPB8 Myopathy is often misdiagnosed as a different disease, and DNA testing is the only definitive way to diagnose it. An accurate diagnosis allows:  

  • Doctors to determine if additional screening tests are necessary for other symptoms, enabling appropriate therapies (e.g., BiPAP for breathing difficulties).  

  • Recommendations for lifestyle changes such as diet, nutrition, and exercise.  

  • the opportunity to participate in research, aiding scientists in learning more about HSPB8 Myopathy.  

  • Insight into who else in the family might develop the disease.  

  • DNA testing for family members without symptoms to identify if they carry the mutation.  

  • Testing of a pregnancy through amniocentesis (testing the fluid around the pregnancy) or chorionic villus sampling (CVS: testing a small sample of the placenta).  

  • Preimplantation genetic diagnosis (PGD), a method of ensuring a pregnancy without the HSPB8 mutation. In PGD, sperm and egg are combined in a laboratory, embryos are tested for the HSPB8 gene, and only those without the familial mutation are implanted. 

What are the risks of DNA Testing? 

People who do not have any symptoms and are considering DNA testing for HSPB8 Myopathy should make an appointment with a geneticist or a genetic counselor. A person must carefully think through the reasons for wanting to get the test, whether they would want to know the results, and how both positive and negative results might affect their life and the lives of other family members. Discussing the testing with a geneticist or genetic counselor will allow a fully informed decision about whether to do the test or know the results. Genetics and genetic counselors are trained to relay results in a way that will be most helpful and least disruptive to a person’s life.  

In the past there have been concerns about insurance and employment discrimination, especially for family members without any symptoms. In 2008 a bill called the Genetic Information Nondiscrimination Act (GINA) was passed. This law protects people from discrimination by insurance companies and employers based on genetic information 

What does it mean if the DNA test comes back negative? 

A negative DNA result means that no mutation was found in the parts of the HSPB8 gene that were tested. A negative result in an asymptomatic person in family with a known HSPB8 mutation means that this person will not develop HSPB8 Myopathy. 

What does it mean if the DNA test comes back positive? 

A positive DNA result means that a mutation that causes HSPB8 Myopathy was found in the HSPB8 gene. For someone experiencing symptoms a positive result confirms the diagnosis of HSPB8 Myopathy. 

←