If the doctor has recommended that your child receive a genetic test for Angelman syndrome, you may be wondering how best to prepare for the appointment.
Genetic tests are medical exams that look for changes in the genome — a person’s complete set of DNA — that might indicate the presence of a genetic disease such as Angelman.
The good news is that the test requires only a blood draw and is usually a simple procedure.
Genetics of Angelman syndrome
The genetic causes of Angelman syndrome are complex. Changes in the expression of the UBE3A gene — fully known as the ubiquitin protein ligase E3A gene — cause the disease, but there are many different ways in which this can happen. There also are some unknown causes of Angelman, which account for about 10-15% of cases.
How is a genetic test done?
A small blood sample is usually sufficient for a genetic test. Your doctor will arrange a time for your child to go to the hospital or clinic for a blood draw. Some hospitals have their own testing laboratory. However, most often, they will send the blood sample to an independent laboratory for testing.
It can take a few days to a few weeks to get back the results of a genetic test. These will go to your doctor, who will arrange to meet with you and discuss what they mean. If the results indicate that there may some changes affecting the UBE3A gene, your doctor will talk to you about any additional testing that may be necessary. Following this discussion, your doctor also will talk with you about treatment options.
How to prepare for a genetic test?
There are usually no preparations that you need to do for a blood draw. Your child should be well-hydrated before the blood sample is taken. You may want to give your child a snack after the blood draw in case of a possible drop in blood sugar levels.
Are there risks or drawbacks?
The risks of giving blood for the test are generally very small. Your child might feel dizzy or lightheaded during a blood draw. There also is a small risk of bleeding and infection at the needle insertion site.
Last updated: Aug. 31, 2020
Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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