Alpha-mannosidosis

Diagnosis and Testing

How do I get tested for Alpha-mannosidosis?

To get tested for Alpha-mannosidosis, visit a doctor or a genetic counselor near you. Tell your doctor or genetic counselor that you are concerned about a genetic condition like Alpha-mannosidosis. They can help decide if testing for Alpha-mannosidosis is right for you. If they do think this test could be important for you, then they can help facilitate testing for Alpha-mannosidosis.

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Is there newborn testing for Alpha-mannosidosis?

Is there more than one type of test for Alpha-mannosidosis?

Who else in my family should I test for Alpha-mannosidosis?

Does it matter if you test blood versus saliva versus a biopsy?

What does it mean to have a "variant" in the gene for Alpha-mannosidosis?

Is there newborn testing for Alpha-mannosidosis?

As of June 14, 2016, there are no newborn screening programs that test for Alpha-mannosidosis.

Is there more than one type of test for Alpha-mannosidosis?

Looking at the levels of the enzyme alpha-mannosidase in the blood or skin cells can determine if someone may have Mucopolysaccharidosis Type VI. Another way to test for Alpha-mannosidosis is by doing a genetic test that looks for specific changes in the MAN2B1 gene in the blood.

Who else in my family should I test for Alpha-mannosidosis?

Because of the skeletal problems that people with Alpha-mannosidosis have, it is usually easy to tell if one of your family members could have this genetic condition; however some people with Alpha-mannosidosis may not have any signs or symptoms at birth. If anyone in your family has signs of Alpha-mannosidosis or is a new full sibling to someone with Alpha-mannosidosis, genetic testing may be useful for them. Other people in the family could be carriers for Alpha-mannosidosis and a genetic counseling consultation might be beneficial to them. Genetic counselors can be found on the National Society of Genetic Counselors website.

Does it matter if you test blood versus saliva versus a biopsy?

Because most people with Alpha-mannosidosis have two genetic changes in their MAN2B1 genes in all of the cells of their body, they would have the same genetic testing results on blood, saliva, or other body tissue from a biopsy. However, most genetic tests for Alpha-mannosidosis are done on the blood.

What does it mean to have a "variant" in the gene for Alpha-mannosidosis?

A "variant" is another word for a change in a gene. Sometimes these changes are not associated with causing a genetic disease or condition, and other times they are. Variants can be benign (not disease-causing), pathogenic (disease-causing), or of unknown significance (possibly disease-causing). Looking at a person's genetic testing report can be helpful to know what type of variant or genetic change someone has inherited for Alpha-mannosidosis. If a person has Alpha-mannosidosis, they have two different disease-causing (pathogenic) variants in their MAN2B1 genes.

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