AGL Gene Glycogen storage disease type 3 NGS Genetic Test
Short Name: AGL Gene GSD Type 3 NGS Test
Also known as: Cori Disease, Glycogen Debranching Enzyme Deficiency, GSD Type III
AGL Gene Glycogen storage disease type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the AGL gene using NGS technology for the diagnosis of Glycogen Storage Disease Type 3 (Cori Disease). It aids in confirming the condition in symptomatic individuals, guiding treatment, and providing genetic counseling for families.
- Test Code
- 2027
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Provide clinical history and family pedigree chart as per genetic counseling session.
Method: Venipuncture for blood; FTA card for drop blood
Laboratory Analysis
Blood sample will be collected via venipuncture or using an FTA card for a drop of blood. Home collection is available for convenience.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities. Store FTA card at room temperature if used.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the AGL gene using NGS technology for the diagnosis of Glycogen Storage Disease Type 3 (Cori Disease). It aids in confirming the condition in symptomatic individuals, guiding treatment, and providing genetic counseling for families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection tubes or FTA cards
- Label samples correctly with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a genetic specialist, I recommend AGL gene testing for individuals with symptoms like hypoglycemia or hepatomegaly to confirm diagnosis and guide management, preventing complications such as liver damage."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled samples
- Contaminated FTA cards
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Glycogen Storage Disease Type 3. Genetic counseling and management plan recommended.
No pathogenic variant detected
GSD type 3 unlikely based on genetic testing. Consider other causes or additional tests.
Variant of unknown significance (VUS)
Clinical correlation and family studies needed. Repeat testing or functional assays may be advised.
Consult a healthcare professional immediately if experiencing symptoms like frequent hypoglycemia, muscle pain, or growth delays. After a positive test result, seek guidance from a metabolic specialist for management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Variants of unknown significance (VUS) may be identified
- ⚠Does not assess enzyme activity levels
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential psychological impact from genetic results
- ●Risk of misinterpretation without professional guidance
Interfering Factors
- ●Poor sample quality
- ●Contamination during sample collection
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | AGL Gene Glycogen storage disease type 3 NGS Genetic Test | Enzyme Assay for GDE | Liver Biopsy | Metabolic Panel |
|---|---|---|---|---|
| Comparison | AGL Gene Glycogen storage disease type 3 NGS Genetic Test | Measures enzyme activity but may not identify specific mutations; less specific than genetic testing. | Invasive procedure to assess glycogen storage; genetic test is non-invasive and more definitive. | Screens for metabolic disorders broadly; genetic testing targets specific gene mutations. |
Frequently Asked Questions
What is Glycogen Storage Disease Type 3?
How is the AGL gene test performed?
What is the cost of the AGL Gene GSD Type 3 NGS Test?
Is home sample collection available for this test?
How long does it take to get the test results?
What symptoms indicate the need for this test?
Is the genetic test accurate for diagnosing GSD type 3?
Can this test be performed on children?
What should I do if the test result is positive?
Is genetic counseling recommended before and after the test?
Are there any risks associated with this genetic test?
How should I prepare for the test?
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