Invitae Comprehensive Glycogen Storage Disease Panel
A 29-gene next-generation sequencing panel with deletion/duplication analysis that evaluates hepatic and muscular glycogen storage diseases, including GSD type Ia.
Accessed through the Glycogen Storage Disease Type Ia Sponsored Testing Program•Sponsored by Ultragenyx Pharmaceutical, Inc.•Performed by Invitae | Labcorp
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
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.
When to consider this test
Patient selection
- Ordering provider practices in the US, discusses testing with the eligible patient, and obtains consent.
- Patient presents with one or more clinical signs consistent with Glycogen Storage Disease Type Ia (GSDIa):
- Hypoglycemia
- Hepatomegaly
- Hyperlipidemia/hypercholesterolemia
- Hypertriglyceridemia
- Severe lactic acidosis/hyperlactatemia
- Hyperuricemia
- Microalbuminuria
- Proteinuria
- Anemia
- Hypertension
Workflow
How to use this program
- 1
Identify eligible patients
Consider patients with suspected or confirmed ARVC, concerning arrhythmias, or relevant family history.
- 2
Order through your usual workflow
Use your standard ordering process for submitting tests to Example Genetics Lab (portal or existing workflows).
- 3
Integrate results into management
Use results to refine diagnosis, guide cascade testing, and inform monitoring and treatment decisions.
- 4
Plan follow-up and cascade testing
Determine downstream actions including surveillance, family member testing, and long-term management plans.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
Testing is performed by Invitae | Labcorp, a CLIA-certified laboratory (CLIA 05D2040778). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Frequently asked questions
Which patients qualify for Glycogen Storage Disease Type Ia sponsored genetic testing?
Patients may qualify for the Glycogen Storage Disease Type Ia genetic testing program if they meet the program's eligibility criteria:
- Ordering provider practices in the US, discusses testing with the eligible patient, and obtains consent.
- Patient presents with one or more clinical signs consistent with Glycogen Storage Disease Type Ia (GSDIa):
- Hypoglycemia
- Hepatomegaly
- Hyperlipidemia/hypercholesterolemia
- Hypertriglyceridemia
- Severe lactic acidosis/hyperlactatemia
- Hyperuricemia
- Microalbuminuria
- Proteinuria
- Anemia
- Hypertension
Which genetic test is used for Glycogen Storage Disease Type Ia?
The Glycogen Storage Disease Type Ia genetic testing program uses the Invitae Comprehensive Glycogen Storage Disease Panel, a 29-gene NGS panel, which evaluates G6PC1 among other associated genes.
What gene causes Glycogen Storage Disease Type Ia?
Glycogen Storage Disease Type Ia is caused by pathogenic variants in the G6PC1 gene. The Glycogen Storage Disease Type Ia genetic testing program evaluates G6PC1 using the Invitae Comprehensive Glycogen Storage Disease Panel.
What specimens are accepted for GSDIa genetic testing?
Invitae accepts saliva, buccal swab, or whole blood samples collected using Invitae kits.
How fast are GSDIa test results returned?
Glycogen Storage Disease Type Ia genetic test results are typically available within 10–21 calendar days (14 days on average) after Invitae receives the specimen and completed requisition.
Is genetic counseling available for Glycogen Storage Disease Type Ia patients?
Yes. Patients tested through the Glycogen Storage Disease Type Ia genetic testing program receive post-test genetic counseling at no charge, provided by Invitae.
Does ordering Glycogen Storage Disease Type Ia testing obligate me to prescribe Ultragenyx products?
No. Participating in the Glycogen Storage Disease Type Ia genetic testing program does not obligate you to recommend, purchase, prescribe, or support any Ultragenyx product or therapy.
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