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 help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
The program offers no-charge genetic testing for individuals in the US suspected of having Glycogen Storage Disease Type Ia (GSDIa). Glycogen Storage Disease Type Ia is caused by variants in the G6PC1 gene. The Comprehensive Glycogen Storage Disease Panel examines G6PC1 alongside related genes to help confirm a diagnosis, guide care, and support informed health decisions.
Who this may help
Could this be right for you or your family?
- This program is available to patients in the US who are suspected of having a clinical diagnosis of Glycogen Storage Disease type Ia (GSDIa).
- 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
What to expect
How the process works
- 1
Talk with your doctor
Discuss your symptoms, personal history, and family history with a cardiologist or genetic specialist.
- 2
Complete the blood draw
If appropriate, your doctor orders the ARVC panel and a simple blood sample is collected and sent to the lab.
- 3
Review your results
Results are returned to your doctor, who will explain what they mean and discuss next steps for care.
- 4
Discuss ongoing follow-up
Work with your doctor to plan ongoing monitoring, follow-up visits, and any recommended testing for family members.
Cost & coverage
Understanding potential costs
If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.
Quality & privacy
How your sample and information are handled
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
Common questions about this program
What is the Glycogen Storage Disease Type Ia genetic testing program?
The Glycogen Storage Disease Type Ia genetic testing program provides sponsored, no-charge genetic testing for individuals suspected of having Glycogen Storage Disease Type Ia (GSDIa). Testing can help confirm a diagnosis and inform care decisions.
Is there free genetic testing for Glycogen Storage Disease Type Ia (GSDIa)?
Yes. Genetic testing through the Glycogen Storage Disease Type Ia genetic testing program is provided at no charge — it is sponsored by Ultragenyx. There is no cost to patients, providers, or payers.
Who qualifies for free GSDIa genetic testing?
Patients may qualify for the Glycogen Storage Disease Type Ia genetic testing program if they meet the program's eligibility criteria:
- This program is available to patients in the US who are suspected of having a clinical diagnosis of Glycogen Storage Disease type Ia (GSDIa).
- 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
What kind of sample is needed for GSDIa genetic testing?
Your provider collects a saliva, buccal swab, or whole blood sample using an Invitae collection kit. Most samples can be returned at no additional charge.
How long do GSDIa genetic test results take?
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 included with Glycogen Storage Disease Type Ia testing?
Yes. Patients tested through the Glycogen Storage Disease Type Ia genetic testing program receive post-test genetic counseling at no charge, provided by Invitae.
Questions to ask your doctor about Invitae Comprehensive Glycogen Storage Disease Panel
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
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