GTR Home > Tests > Test for Alpha-Mannosidosis

Overview

Conditions for which test is offered: Alpha-Mannosidosis

Testing Method

Not provided

Description of ResearchHelp

  • Mutation analysis (DNA-sequencing, RNA/cDNA analysis), expression studies (site-directed mutagenesis, enzyme activity, intracellular processing, intracellular localization), molecular modelling of selected missense mutations and creation of a mutation database.

Contact Policy Help

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.

Genetic counselor

  • Christoffer Jonsrud, MD, Laboratory Genetic Counselor
  • Phone number: +47 77645409
  • Email: christoffer.jonsrud@unn.no
  • Fax number: +47 77645430

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