- ARSA deficiency
- Arylsulfatase A deficiency
- Cerebral sclerosis diffuse metachromatic form
- Cerebroside sulfatase deficiency
- Leukodystrophy metachromatic
Tests & Diagnosis
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If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. Generally speaking, the more closely related an individual is to the affected individual or carrier, the greater the chance for that person to be a carrier. Prior to genetic testing, the chance to be a carrier for some biological relatives of an affected individual are as follows:
- Parent of affected individual: assumed to be 100% (called an obligate carrier)
- Unaffected sibling of affected individual: 2 in 3 (~66.6%)
- Aunt or uncle of affected individual: 1 in 2 (50%)
- First cousin of affected individual: 1 in 4 (25%)
If someone has carrier testing and is found to be negative (not a carrier), that person's children are typically assumed to be negative also.
More information about the use of genetic carrier testing is available on GeneTests' Web site and can be viewed by clicking here.
Individuals who are interested in learning about genetic testing and about their specific risk to be a carrier should speak with a genetics professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.