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Diseases

Genetic and Rare Diseases Information Center (GARD)

GM1 gangliosidosis


Other Names for this Disease
  • Beta galactosidase 1 deficiency
  • GLB 1 deficiency
  • Beta-galactosidosis
  • GLB1 deficiency
  • Landing disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for GM1 gangliosidosis?

Yes. A diagnosis of GM1 gangliosidosis (GM1), can be made by either enzyme analysis of the beta-galactosidase enzyme, or by molecular genetic testing of the GLB1 gene. Despite the availability of molecular genetic testing, the mainstay of diagnosis will likely continue to be enzyme activity because of cost and difficulty in interpreting unclear results.[1] However, enzyme activity may not be predictive of carrier status in relatives of affected people. Carrier testing for at-risk family members is done with molecular genetic testing, and is possible if the disease-causing mutations in the family are already known.[1]

The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 11/17/2015

References
  1. Debra S Regier and Cynthia J Tifft. GLB1-Related Disorders. GeneReviews. October 17, 2013; http://www.ncbi.nlm.nih.gov/books/NBK164500/.


Other Names for this Disease
  • Beta galactosidase 1 deficiency
  • GLB 1 deficiency
  • Beta-galactosidosis
  • GLB1 deficiency
  • Landing disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.