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GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic Test

Short Name: GM1-gangliosidosis Type 1 NGS Test

Also known as: GLB1 Gene Sequencing Test, GM1-gangliosidosis Genetic Diagnosis, Lysosomal Storage Disorder Genetic Test

GLB1 Gene GM1-gangliosidosis type 1 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 Reports are typically available within 3 to 4 weeks after sample collection.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic Test is to identify mutations in the GLB1 gene for accurate diagnosis of GM1-gangliosidosis type 1, enabling early intervention, genetic counseling, and informed family planning decisions.

Test Code
2061
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after sample collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling is recommended before testing to discuss implications and obtain informed consent.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture under aseptic conditions.

Step 3

Report Delivery

The sample is labeled and transported to the laboratory for NGS analysis.

Timeline: Reports are typically available within 3 to 4 weeks after sample collection.

Patient Instructions

1
Before the Test:Consult a genetic counselor to understand the test implications, provide a family pedigree chart, and obtain informed consent.
2
During the Test:A small blood sample is drawn from the patient's vein for DNA extraction and NGS analysis.
3
After the Test:Wait for the report, which takes 3-4 weeks, then follow up with a genetic counselor for result interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic Test is to identify mutations in the GLB1 gene for accurate diagnosis of GM1-gangliosidosis type 1, enabling early intervention, genetic counseling, and informed family planning decisions.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment for venipuncture
  • Collect blood in an EDTA tube
  • Transport sample at room temperature within 24 hours

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for GM1-gangliosidosis type 1 is crucial for early diagnosis, allowing for better symptom management and genetic counseling for families. It helps in understanding inheritance patterns and planning for supportive care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml Blood
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Extracted DNA can be stored at -20°C for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or contamination

Understanding Your Results

Results indicate the presence or absence of mutations in the GLB1 gene associated with GM1-gangliosidosis type 1, aiding in diagnosis and genetic counseling.
Positive Result: Pathogenic mutation(s) detected, confirming diagnosis of GM1-gangliosidosis type 1.
Negative Result: No pathogenic mutations detected, but clinical correlation is necessary as symptoms may be due to other causes.
Variant of Uncertain Significance (VUS): A genetic variant is detected, but its clinical significance is unknown, requiring further evaluation or family studies.
⚠️ When to Consult a Doctor:

If symptoms of GM1-gangliosidosis type 1 are present, for genetic counseling before or after testing, or to discuss family planning and risk assessment.

Limitations

  • May not detect all types of genetic mutations, such as large deletions or intronic variants
  • Results should be interpreted in conjunction with clinical findings and family history
  • Does not predict disease severity or progression

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection at the site
  • Psychological impact of receiving genetic results
  • Potential for variants of uncertain significance that may cause anxiety

Interfering Factors

  • Sample contamination
  • Degraded or insufficient DNA quality

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Frequently Asked Questions

What is GM1-gangliosidosis type 1?
GM1-gangliosidosis type 1 is a rare genetic disorder caused by mutations in the GLB1 gene, leading to severe neurological symptoms due to ganglioside accumulation in the nervous system.
How is GM1-gangliosidosis type 1 inherited?
It is inherited in an autosomal recessive pattern, meaning both parents must carry a mutated GLB1 gene for their child to be affected.
What are the common symptoms of GM1-gangliosidosis type 1?
Symptoms include severe muscle weakness, developmental delay, seizures, feeding difficulties, enlarged liver and spleen, and loss of developmental milestones in infancy.
How is GM1-gangliosidosis type 1 diagnosed?
Diagnosis is primarily through genetic testing, such as NGS, which analyzes the GLB1 gene for mutations from a blood or DNA sample.
What does the GLB1 Gene NGS Genetic Test involve?
The test uses Next-Generation Sequencing to comprehensively analyze the GLB1 gene for mutations, providing a detailed genetic report.
What is the cost of the GM1-gangliosidosis type 1 NGS Genetic Test in India?
The cost is approximately INR 20,000 at DNA Labs India, which may vary based on location and additional services.
How long does it take to get results from this test?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
What should I do before taking the test?
Genetic counseling is recommended to discuss implications, provide family history, and understand the testing process.
How accurate is the NGS test for GM1-gangliosidosis type 1?
NGS is highly accurate for detecting mutations in the GLB1 gene, but results should be interpreted in clinical context due to potential variants of uncertain significance.
Can this test be used for carrier testing?
Yes, the test can identify carriers of GLB1 gene mutations, which is important for family planning and genetic counseling.
What happens if the test result is positive?
A positive result confirms diagnosis, allowing for symptom management, genetic counseling, and planning for supportive care, but there is no cure.
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.

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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.

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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.

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