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
Glycogen Storage Disease Type Ia (GSDIa) is a rare inherited condition where the body cannot properly break down stored glycogen or maintain normal blood sugar levels, and it is caused by changes in the G6PC1 gene. If your doctor suspects GSDIa, a sponsored testing program can help you get a clear genetic answer, because confirming a diagnosis can make a real difference in guiding the right care for you or your child. The testing is completely free to you and your family, as the full cost is covered by Ultragenyx Pharmaceutical, Inc. Genetic counseling is also included at no charge, so you will have expert support to help you understand your results.
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 sponsored genetic testing program for Glycogen Storage Disease Type Ia?
The Glycogen Storage Disease Type Ia program provides no-cost genetic testing for people in the United States who may have GSDIa. It uses the Invitae Comprehensive Glycogen Storage Disease Panel, which looks at 29 genes including G6PC1, the gene responsible for GSDIa. The program is sponsored by Ultragenyx Pharmaceutical, Inc., which covers the entire cost of testing.
Is the GSDIa genetic test really free, and who pays for it?
Yes, the GSDIa genetic testing program is completely free to you. Ultragenyx Pharmaceutical, Inc. covers the full cost, so there is no charge, no copay, and no bill sent to you or your insurance. You simply need to meet the program's criteria and have a healthcare provider place the order.
What kind of sample is needed for the Glycogen Storage Disease Type Ia genetic test?
The Glycogen Storage Disease Type Ia program accepts a saliva sample, a buccal swab (a gentle cheek swab), or a whole blood draw. Your healthcare provider will help determine which sample type works best for you or your child. The process is straightforward and can often be done at your provider's office.
How long does it take to get results from the GSDIa genetic testing program?
Results from the Glycogen Storage Disease Type Ia testing program typically come back in about 14 days on average, with a range of 10 to 21 calendar days. Your healthcare provider will receive the results and go over them with you. If you have questions while you wait, genetic counseling is included with the program at no cost.
Does the Glycogen Storage Disease Type Ia program include genetic counseling?
Yes, the GSDIa sponsored testing program includes genetic counseling at no charge. A genetic counselor can help you understand what your results mean, answer your questions about GSDIa and the G6PC1 gene, and talk through next steps for care. This support is part of the program so you do not have to navigate the results on your own.
What symptoms might lead a doctor to order the GSDIa genetic test?
Doctors may consider testing for Glycogen Storage Disease Type Ia if a person shows signs such as low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), high cholesterol or triglycerides, severe lactic acidosis, high uric acid levels, or kidney-related findings like protein in the urine. If you or your child has any combination of these symptoms, talk with your healthcare provider about whether this no-cost testing program may be right for you.
Who qualifies for Glycogen Storage Disease Type Ia Glycogen Storage Disease Type Ia genetic testing?
Patients may qualify for Glycogen Storage Disease Type Ia 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
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
See an issue with this program?