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  Ultragenyx is sponsoring a program to make no-cost genetic testing for Glucose Type-1 Deficiency Syndrome (Glut1 DS) available for patients with symptoms of Glut1 DS or a family history of the disease.

The test does not identify a mutation in all people who have Glut1 DS. A negative test result does not necessarily mean that your patient does not have Glut1 DS.

The genetic test panel includes 3 key mutations which may account for up to 47% of paroxysmal dyskinesia cases.

• SLC2A1 for Glut1 DS
• PRRT2 for Paroxysmal Kinesigenic Dyskinesia (PKD)
• PNKD (MR-1) for Paroxysmal Nonkinesigenic Dyskinesia (PNKD)

The test takes up to 4 weeks and is performed at MNG Laboratories. MNG will then email you the report with the genetic test results. To proceed with ordering Glut1 DS genetic testing kits, please click "Next" below to complete a brief survey and request form.

The Glut1 DS no-cost testing program will be discontinued on March 31st, 2019 . No new test kits will be available after Dec 15th 2018 . After Dec 15th if you have a patient that you wish to test and have a test kit on hand, please send to MNG Labs as described in the kit, prior to March 31st 2019. After March 31st no-cost Glut1 DS testing kits will no longer be accepted by MNG labs for processing.

Thank you for your interest.



Reference 1: Gardiner, Alice R. et al. “The Clinical and Genetic Heterogeneity of Paroxysmal Dyskinesias.” Brain 138.12 (2015): 3567–3580. PMC. Web. 3 Jan. 2017.