Skip to main content
DNA Labs India

GBE1 Gene Andersen disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GBE1 Gene Andersen disease NGS Genetic Test

Short Name: GBE1 NGS Genetic Test

Also known as: Glycogen storage disease type IV, GSD IV, Andersen disease

GBE1 Gene Andersen disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Andersen disease by identifying mutations in the GBE1 gene using next-generation sequencing technology, facilitating early management and genetic counseling.

Test Code
1888
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with Andersen disease. No fasting is required.

Step 2

Laboratory Analysis

Sample collection involves drawing blood or providing a DNA sample; procedure is similar to standard blood tests.

Step 3

Report Delivery

Apply pressure to the collection site; no specific post-collection care needed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and pedigree chart preparation recommended; no fasting required.
2
During the Test:Sample collection as per standard protocol.
3
After the Test:Results available online after 3 to 4 weeks; follow-up with genetic counselor for interpretation.

About This Test

Who Should Get This Test

To diagnose Andersen disease by identifying mutations in the GBE1 gene using next-generation sequencing technology, facilitating early management and genetic counseling.

How to Prepare

  • Blood sample: Collect in EDTA or FTA card.
  • Extracted DNA: Ensure adequate quantity and quality.
  • Home collection available in listed cities across India.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This genetic test is essential for early diagnosis and management of Andersen disease, particularly in families with a history of metabolic disorders or symptoms like hepatosplenomegaly and hypoglycemia."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of mutations in the GBE1 gene associated with Andersen disease. Interpretation should be done by a qualified genetic professional.
Positive: Pathogenic variant(s) detected, confirming diagnosis of Andersen disease.
Negative: No pathogenic variants detected; clinical correlation recommended if symptoms persist.
Variant of uncertain significance (VUS): Genetic counseling advised for further evaluation.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms like enlarged liver, poor growth, hypoglycemia, or muscle weakness are present, especially with a family history of metabolic disorders.

Limitations

  • This test may not detect all genetic variants due to sequencing limitations or large deletions/duplications.
  • Results require interpretation by a genetic counselor or healthcare professional.
  • Does not rule out other metabolic disorders or genetic conditions.

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or discomfort.
  • Potential psychological impact from genetic results; genetic counseling available.

Frequently Asked Questions

What is Andersen disease?
Andersen disease, or glycogen storage disease type IV (GSD IV), is a rare genetic disorder caused by mutations in the GBE1 gene, leading to abnormal glycogen storage and affecting liver and muscle function.
What causes Andersen disease?
It is caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. These mutations are inherited in an autosomal recessive pattern.
What are the symptoms of Andersen disease?
Common symptoms include enlarged liver and spleen, poor growth, muscle weakness, low blood sugar, respiratory problems, and seizures, often appearing in infancy or early childhood.
How is Andersen disease diagnosed?
Diagnosis involves clinical evaluation, blood tests, and genetic testing. The GBE1 Gene NGS Genetic Test is the most reliable method to identify mutations in the GBE1 gene.
What is the GBE1 Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the GBE1 gene for mutations, providing accurate diagnosis of Andersen disease by detecting pathogenic variants.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, free home collection is offered in numerous cities across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks, delivered via online portal, email, or WhatsApp.
Who should get tested for Andersen disease?
Individuals with symptoms like hepatosplenomegaly, hypoglycemia, or developmental delays, and those with a family history of Andersen disease or metabolic disorders.
What if the test is positive?
A positive result confirms Andersen disease. Consult a genetic counselor or specialist for management, treatment options, and family planning advice.
Are there any risks to the test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have psychological impacts; genetic counseling is provided.
Is the test covered by insurance?
Coverage depends on insurance plans; it is not generally covered under government schemes like PMJAY or CGHS. Check with your provider.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.