Mucopolysaccharidosis Type VI
Diagnosis and Testing
Who should be tested for Mucopolysaccharidosis Type VI?
While Mucopolysaccharidosis Type VI (MPS VI) is relatively rare, it can run in families and be passed from parents to children. The way that it is passed down is called autosomal recessive inheritance. This means that in order to develop symptoms of MPS VI, a person must have inherited two non-working copies of the ARSB gene, which is the gene associated with this condition. If a person has one working copy and one non-working copy, they are a carrier for MPS VI but do not have any symptoms themselves. We assume that both parents of an affected person are carriers, so each of their children has a 1 in 4 or 25% chance of having MPS VI as well. Because of the skeletal problems that people with MPS VI have, it is usually easy to tell if one of your adult family members could have this genetic condition. Testing the brothers and sisters of someone who has MPS VI is important because it can find out who is a carrier and who is also affected by MPS VI (for example, a baby that may not have visible symptoms yet). The aunts and uncles of people with MPS VI may also be carriers. If other people in the family want to know their chances to have a baby with MPS VI, they can be tested for the same gene changes as the person diagnosed with MPS VI.
To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website (www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: www.nsgc.org.