Glycogen Storage Disease Type Ia

Sponsored, no-charge genetic testing
US

GSDIa

What is the Glycogen Storage Disease Type Ia Program?

This program provides sponsored, no-charge genetic testing for individuals suspected of having Glycogen Storage Disease Type Ia (GSDIa).

GSDIa is a rare inherited metabolic disorder that results in the buildup of glycogen in the body's cells and an inability to regulate and maintain normal blood sugar levels. It is caused by variants in the G6PC1 gene.

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The Glycogen Storage Disease Type Ia Program

  • This Glycogen Storage Disease Type Ia program is for patients with a suspected GSDIa diagnosis. The program was created to provide access to genetic testing to patients as a way to help make more informed decisions about their health.

About the program

About GSDIa and the Glycogen Storage Disease Type Ia Program

GSDIa is the most common type of genetically inherited glycogen storage diseases. It is caused by a defective gene for the enzyme glucose-6-phosphatase, which makes the body unable to convert the complex sugar glycogen (from foods such as carbohydrates) into glucose to regulate blood sugar. Common symptoms include:1,2

  • Hypoglycemia
  • Hepatomegaly
  • Hyperlipidemia/hypercholesterolemia
  • Hypertriglyceridemia
  • Severe lactic acidosis/hyperlactatemia
  • Hyperuricemia
  • Microalbuminuria
  • Proteinuria
  • Anemia
  • Hypertension

Criteria requirements

Healthcare professionals must confirm that patients meet certain criteria to use the program.

De-identified patient data

Ultragenyx receives de-identified patient data from this program, but at no time does Ultragenyx receive patient-identifiable information. Ultragenyx uses healthcare professional contact information for research and commercial purposes.

No obligation

Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Ultragenyx product.

Test options

This program offers testing with the following panel. Learn more about the panels in our test catalog before placing your order on this program page.

Note: Re-requisitions are not available through this sponsored testing program.

How to order

Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.

  • Step 1 duotone icon

    Step 1

    Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.

  • Step 2 duotone icon

    Step 2

    Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US.

  • Genetic testing expert - Invitae icon

    Step 3

    Receive results online and access resources to guide your discussion with the patient about their results.

See how it works
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Genetic counseling services

Individuals tested through the Glycogen Storage Disease Type Ia program are eligible for post-test genetic counseling to help them understand their test results. This service is made available at no charge as part of the program. Patients can access genetic counseling by using an online scheduling option or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.

About Ultragenyx Pharmaceutical, Inc.
Ultragenyx is a biopharmaceutical company committed to bringing to patients novel products for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need and clear biology for treatment, for which there are no approved therapies.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx’s strategy is predicated upon time- and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

For more information on Ultragenyx, please visit the company's website at www.ultragenyx.com.


References

  1. National Organization for Rare Disorders. Glycogen Storage Disease Type I. NORD Website. Published 2019. Accessed October 31, 2021. https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i/
  2. Glycogen storage disease type 1A. National Institutes of Health: Genetic and Rare Diseases Information Center Website. https://rarediseases.info.nih.gov/diseases/7864/glycogen-storage-disease-type-1a. Updated March 1, 2019. Accessed March 29, 2019

    MRCP-DTX401-00119

    Disclaimer: This is a sponsored testing program. While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Labcorp Genetics. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified (pseudonymized) patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Labcorp Genetics or from third parties or commercial organizations.