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 Ultragenyx-sponsored program provides no-cost access to the Invitae Comprehensive Glycogen Storage Disease Panel for US patients with clinical suspicion for Glycogen Storage Disease Type Ia. A confirmed molecular diagnosis of G6PC1 variants can directly inform disease management, family screening, and eligibility for emerging therapies. Ordering carries no obligation to recommend, prescribe, or support any Ultragenyx product, and genetic counseling is included for your patients.
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 are appropriate for the sponsored GSDIa genetic testing program?
The Glycogen Storage Disease Type Ia program is intended for US-based patients with clinical features suggestive of GSDIa, such as hypoglycemia, hepatomegaly, hyperlipidemia, hypertriglyceridemia, severe lactic acidosis, hyperuricemia, microalbuminuria, proteinuria, anemia, or hypertension. Patients must meet the program's eligibility criteria. Ordering is straightforward and carries no obligation to prescribe or promote any Ultragenyx product.
What does the Invitae Comprehensive Glycogen Storage Disease Panel cover for GSDIa testing?
The Invitae Comprehensive Glycogen Storage Disease Panel interrogates 29 genes by next-generation sequencing, including G6PC1, the causative gene for GSDIa. The broad panel design allows simultaneous evaluation of related glycogen storage diseases, which can be valuable when the clinical phenotype overlaps across subtypes. The program is fully sponsored by Ultragenyx Pharmaceutical, Inc., so there is no cost to the patient.
What specimen types are accepted and what is the turnaround time for the GSDIa panel?
The GSDIa sponsored testing program accepts whole blood, saliva, or buccal swab specimens. Turnaround time is 10 to 21 calendar days, with an average of approximately 14 days. Kits can be requested through the program, making specimen collection and logistics straightforward for your practice.
Is genetic counseling available through the sponsored Glycogen Storage Disease Type Ia program?
Yes, the Glycogen Storage Disease Type Ia program includes genetic counseling services at no cost. This resource is available to support your patients in understanding their results, the implications of identified G6PC1 variants, and considerations for family testing. It can complement your clinical discussion without adding cost or administrative burden to your practice.
Is there any prescribing or purchasing obligation when ordering through the GSDIa sponsored testing program?
There is no obligation whatsoever. Healthcare professionals or patients who use the Glycogen Storage Disease Type Ia program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Ultragenyx product. The program is provided solely to support molecular diagnosis of GSDIa, and the full cost of testing is covered by the sponsor.
Which patients are eligible 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:
- 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
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