Glycogen Storage Disorder Gene Panel Test: Booking, Price, and Results
About Glycogen Storage Disorder Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | GSD Gene Panel, Glycogen Storage Diseases Panel, Glycogenosis Panel |
| Sample Type | Chorionic Villus (CVS), Amniotic Fluid, Cord Blood, Peripheral Blood |
| Fasting Required | No |
| Report Time | 25 days |
| Recommended For | Infants, children, and adults with suspected glycogen storage disorder; at-risk family members |
| Price | Starting at ₹30,000 |
What is a Glycogen Storage Disorder Gene Panel Test?
The glycogen storage disorder gene panel test is a specialised genetic test that analyses multiple genes linked to glycogen storage diseases (GSDs). GSDs are inherited metabolic conditions caused by enzyme defects that disrupt how the body stores or breaks down glycogen (a form of stored sugar). Doctors order this test when a patient shows symptoms suggesting a GSD or has a family history of the condition. Samples accepted include Chorionic Villus (CVS), Amniotic Fluid, Cord Blood, and Peripheral Blood, depending on the clinical situation.
What Does a Glycogen Storage Disorder Gene Panel Test Measure?
This test uses Next-Generation Sequencing (NGS), a method that reads DNA quickly and accurately, to examine genes associated with glycogen metabolism. It detects small changes in individual DNA building blocks as well as larger deletions or duplications of DNA segments.
The key genes analysed include the following:
| Gene | Role |
|---|---|
| AGL | Encodes glycogen debranching enzyme |
| G6PC | Encodes glucose-6-phosphatase (releases glucose from the liver) |
| GAA | Encodes acid alpha-glucosidase (breaks down glycogen in lysosomes) |
| GBE1 | Encodes glycogen branching enzyme |
| PYGL / PYGM | Encode liver and muscle glycogen phosphorylases |
| PHKA1 / PHKA2 / PHKB / PHKG2 | Encode phosphorylase kinase subunits |
| SLC37A4 | Encodes glucose-6-phosphate transporter |
| LAMP2 | Associated with Danon disease (affects the heart and muscles) |
| EPM2A / NHLRC1 | Associated with Lafora disease (a form of epilepsy with glycogen accumulation) |
Why is a Glycogen Storage Disorder Gene Panel Test Done?
A doctor may order the Glycogen Storage Disorder Gene Panel test when symptoms or laboratory findings point to an inherited problem with glycogen metabolism. Below are the common reasons this test is requested.
Common Symptoms That May Require This Test
The following symptoms frequently prompt a referral for this test:
- Hepatomegaly (enlarged liver), especially in infants and young children
- Hypoglycaemia (low blood sugar), particularly after short fasting periods
- Muscle cramps and pain during or after physical activity
- Exercise intolerance or inability to sustain normal physical effort
- Progressive muscle weakness
- Extreme fatigue without an obvious cause
- Cardiomyopathy (heart muscle disease) in certain forms of GSD
Conditions This Test Can Help Detect
This panel can help identify a range of inherited metabolic conditions, including:
- GSD Type 0 (glycogen synthase deficiency)
- GSD Type I (von Gierke disease)
- GSD Type II (Pompe disease)
- GSD Type III (Cori disease / Forbes disease)
- GSD Type IV (Andersen disease)
- GSD Type V (McArdle disease)
- GSD Type VI (Hers disease)
- GSD Type IX (phosphorylase kinase deficiency)
- Danon disease
- Lafora disease (a form of progressive myoclonic epilepsy)
How to Prepare and What to Expect
Preparing for the Glycogen Storage Disorder Gene Panel test is straightforward. The sections below cover fasting rules, preparation tips, the sample collection process, and factors that may affect accuracy.
Do You Need to Fast?
No fasting is required for this test. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
Keep the following points in mind before attending your appointment:
- Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
- Inform the laboratory and your doctor about any recent blood transfusions or haematopoietic stem cell transplants, as these can affect results
- Carry any previous genetic reports or metabolic test results relevant to a suspected GSD
- Wear clothing that allows easy access to the arm if a peripheral blood sample is being collected
Step-by-Step Procedure
The sample collection process varies depending on the sample type required. Your doctor will advise which sample is appropriate for your situation.
Peripheral Blood Collection:
- A trained phlebotomist cleans a vein on your arm with an antiseptic swab.
- A small blood sample is drawn into a suitable collection tube.
- The site is covered with a small dressing; the procedure takes only a few minutes.
- The sample is labelled, stored at the correct refrigeration temperature, and dispatched to the laboratory.
- DNA is extracted and analysed using NGS technology.
- Your report is prepared and delivered within 25 days.
CVS, Amniotic Fluid, or Cord Blood Collection:
- These samples are collected by a specialist clinician in a clinical setting, not at home.
- CVS (a small tissue sample from the placenta), amniotic fluid, or cord blood is collected using a sterile procedure specific to each sample type.
- The collected sample is placed in a sterile container and stored under refrigeration (2 to 8 degrees Celsius).
- The sample is transported to the genetics laboratory under controlled conditions.
- DNA is extracted and sequenced using NGS.
- A detailed report is issued within 25 days.
Factors That Can Affect Accuracy
The following factors can affect the reliability of results:
- A recent heterologous blood transfusion (donor DNA may be present in the sample)
- A prior allogeneic haematopoietic stem cell transplant (stem cell donor DNA can interfere with analysis)
- Poor sample quality or insufficient sample volume
- Technical limitations of NGS in certain gene regions (such as areas with repetitive DNA sequences)
Understanding Your Glycogen Storage Disorder Gene Panel Test Results
Results from the Glycogen Storage Disorder Gene Panel test are interpreted by a geneticist or metabolic specialist. The table below outlines the possible result categories and their general meaning.
| Result Category | Interpretation |
|---|---|
| Negative (no pathogenic variants detected) | No disease-causing genetic changes found; does not completely rule out a GSD |
| Pathogenic or Likely Pathogenic variant(s) detected | Confirms a molecular diagnosis of a specific GSD type |
| Variant of Uncertain Significance (VUS) | Clinical significance is unclear; further family studies or functional testing may be needed |
| Carrier status (single heterozygous variant) | One copy of a recessive disease gene; person is typically unaffected but may pass the variant to children |
All detected variants are evaluated according to the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines.
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Certain situations can affect the accuracy of this test. If you have had an allogeneic haematopoietic stem cell transplant or a recent heterologous blood transfusion, donor DNA in your sample may lead to inaccurate results. If a saliva sample is used instead of blood, the lower DNA quantity or quality may affect performance in some parts of the analysis.
How to Maintain Healthy Levels
While genetic variants cannot be changed, the following steps support better health outcomes after diagnosis:
- Early diagnosis allows doctors to recommend appropriate dietary changes and metabolic management tailored to the specific GSD type.
- Regular follow-up with a metabolic specialist or geneticist helps track disease progression and adjust management plans.
- Genetic counselling assists families in understanding inheritance patterns and reproductive options.
Lupin Diagnostics Glycogen Storage Disorder Gene Panel Test Price
The Glycogen Storage Disorder Gene Panel test is priced starting at ₹30,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 30000 |
| CHENNAI | 30000 |
| HYDERABAD | 30000 |
| KOLKATA | 30000 |
| NAVI MUMBAI | 30000 |
| PUNE | 30000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to get your Glycogen Storage Disorder Gene Panel test online booking:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within 25 days.
Frequently Asked Questions
The Glycogen Storage Disorder Gene Panel test identifies genetic variants linked to glycogen storage diseases, a group of inherited metabolic conditions caused by enzyme defects in glycogen synthesis or breakdown. It helps confirm a diagnosis, guide clinical management, and support genetic counselling for affected families.
This test is suitable for individuals with signs such as an enlarged liver, recurrent low blood sugar, exercise intolerance, muscle pain, or unexplained weakness. It may also be recommended for people with abnormal biochemical results or a family history that suggests a glycogen storage disorder.
The Glycogen Storage Disorder Gene Panel test procedure accepts four sample types: Peripheral Blood, Chorionic Villus (CVS), Amniotic Fluid, and Cord Blood. Your doctor will advise which sample is appropriate based on your clinical situation.
The report for this Glycogen Storage Disorder Gene Panel test is delivered within 25 days from the date of sample collection.
A negative result means no disease-causing genetic variant was found in the genes tested. However, a negative result does not completely rule out a glycogen storage disorder, as technical limitations may occasionally mean a variant goes undetected. Your doctor will review the result alongside your symptoms and other test findings.
Yes, prenatal testing is possible using CVS or amniotic fluid samples, but only when a pathogenic variant has already been identified in an affected family member. This is not a routine prenatal screening test for all pregnancies. Genetic counselling before testing is strongly recommended.
Glycogen storage diseases are uncommon. Globally, the estimated incidence is approximately 1 case per 20,000 to 43,000 live births. Because over 15 different types of GSD exist, each caused by a different enzyme deficiency, a gene panel approach helps identify the exact type efficiently.
Glycogen Storage Disorder Gene Panel Test: Booking, Price, and Results
