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GLB1 Gene GM1-gangliosidosis NGS Genetic Test

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GLB1 Gene GM1-gangliosidosis NGS Genetic Test

Short Name: GLB1 NGS Test

Also known as: GLB1 Gene Mutation Test, GM1 Gangliosidosis NGS Panel, Beta-galactosidase Gene Sequencing

GLB1 Gene GM1-gangliosidosis 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 generally available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect disease-causing variants in the GLB1 gene that lead to GM1 gangliosidosis. The NGS method analyses the complete coding region and splice-site boundaries of the gene, allowing identification of pathogenic and likely pathogenic mutations. This test is used to confirm a clinical diagnosis, aid in prenatal and carrier screening decisions, and provide important information for genetic counselling and family planning.

Test Code
4116
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended to obtain a pedigree chart and to discuss the purpose, implications, and potential outcomes of the test.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A blood sample is collected using standard venipuncture into an EDTA vacutainer. If using FTA card, apply one drop of blood to the circle and air dry. For extracted DNA, deliver the purified DNA in a sterile tube.

Step 3

Report Delivery

You may leave the laboratory immediately. No specific precautions are needed.

Timeline: Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting is needed. Please bring a valid ID and any prior medical records, imaging, or biochemical test results. A genetic counselling session is recommended before proceeding with the test.
2
During the Test:A blood sample will be taken from a vein in your arm. The procedure takes about 5–10 minutes. If you are providing an FTA card, a small finger or heel prick may be used.
3
After the Test:You can resume your normal activities immediately. The sample will be transported to the lab for processing. Your results will be shared via the chosen report delivery method once ready.

About This Test

Who Should Get This Test

The purpose of this test is to detect disease-causing variants in the GLB1 gene that lead to GM1 gangliosidosis. The NGS method analyses the complete coding region and splice-site boundaries of the gene, allowing identification of pathogenic and likely pathogenic mutations. This test is used to confirm a clinical diagnosis, aid in prenatal and carrier screening decisions, and provide important information for genetic counselling and family planning.

How to Prepare

  • Inform the lab if you have had a bone marrow/stem cell transplant.
  • For FTA card: fill the marked circles completely with capillary blood.
  • For extracted DNA: use a nuclease-free sterile tube and ensure sufficient concentration.
  • Label the sample properly with your name and unique ID.

Doctor's Notes

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

"Genetic counselling is essential before and after GM1 gangliosidosis testing to provide accurate recurrence risk and family guidance."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or 1-2 drops on FTA card
ContainerEDTA vacutainer, FTA card, or sterile DNA extraction tube
Collection MethodVenipuncture or FTA card spot

Sample Stability

Whole blood (EDTA): 24 hours at room temperature, 7 days at 2-8°C
FTA card: stable for months at room temperature
Extracted DNA: stable for 6 months at -20°C
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Container not labelled or sample not matching request
  • Insufficient quantity of blood or DNA
  • Sample received after beyond stability period

Understanding Your Results

This NGS test is for the detection of sequence variants in the GLB1 gene. The interpretation should be performed by a qualified clinical geneticist in the context of the patient's clinical findings and family history.
📊

Pathogenic/Likely pathogenic variant detected (homozygous or compound heterozygous)

Supports a diagnosis of GM1 gangliosidosis. Risk of transmitting the variant to offspring depends on reproductive partner's carrier status.

📊

Single pathogenic/likely pathogenic variant detected with a second variant not identified

Individual may have a diagnosis or be a carrier. Additional testing such as enzyme assay or copy number analysis may be needed.

📊

Variant of uncertain significance (VUS) detected

The significance is not yet established; segregation analysis in family may help classify the variant.

📊

No pathogenic variant detected

Reduces but does not completely exclude a molecular diagnosis. Other genetic causes should be considered.

⚠️ When to Consult a Doctor:

If you have a family history of GM1 gangliosidosis or a personal/family history of unexplained developmental delay, muscle weakness, seizures, or organomegaly, consult a clinical geneticist or neurologist.

Limitations

  • ⚠NGS may not detect large deletions, duplications, or chromosomal rearrangements
  • ⚠Variants in non-coding regions (outside splice sites) may not be identified
  • ⚠This test does not measure enzyme activity or diagnose other gangliosidoses
  • ⚠Test results should be interpreted by a clinical geneticist in the context of clinical findings

Risks & Considerations

  • ●No significant physical risk from blood sample collection. Possible minor pain, bruising, or soreness at the injection site.
  • ●No additional medical risks associated with genetic testing itself, but psychosocial implications may arise; genetic counselling is advised.

Interfering Factors

  • ●Haemolysis or clotting of blood sample
  • ●Sample mix-up or mislabelling
  • ●Maternal cell contamination in prenatal samples (not applicable for blood)
  • ●Recent bone marrow or stem cell transplant may affect DNA analysis
  • ●Insufficient DNA quantity or quality

Compare With Similar Tests

TestGLB1 Gene GM1-gangliosidosis NGS Genetic TestBeta-Galactosidase Enzyme AssayTargeted Single Variant Test
ComparisonGLB1 Gene GM1-gangliosidosis NGS Genetic Test

Frequently Asked Questions

What is GM1 gangliosidosis?
GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GLB1 gene. It leads to deficiency of beta-galactosidase and accumulation of GM1 ganglioside, resulting in progressive neurological and systemic symptoms.
What is the GLB1 gene?
The GLB1 gene encodes beta-galactosidase, an enzyme needed to break down GM1 ganglioside. Pathogenic variants in this gene are responsible for GM1 gangliosidosis.
What does NGS mean?
NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can rapidly sequence multiple genes or gene regions simultaneously. It is highly accurate for detecting single nucleotide variants and small insertions/deletions.
What sample is required for this test?
The sample can be a whole blood sample in EDTA, extracted DNA, or one drop of blood on an FTA card. For best results, blood in an EDTA vacutainer is recommended.
Is fasting required before the test?
No, this is a genetic test and does not require fasting.
What is the price of the test?
The price for the GLB1 gene GM1 gangliosidosis NGS genetic test is INR 20,000, which includes free home sample collection in eligible cities.
How long does the test take?
Results are usually available within 3 to 4 weeks, as the NGS process is complex and involves advanced bioinformatics analysis.
What do positive and negative results mean?
A positive result indicates detection of a pathogenic/likely pathogenic variant in the GLB1 gene, which supports a diagnosis. A negative result means no pathogenic variant was detected in the tested regions, but it does not completely rule out GM1 gangliosidosis.
Can this test be used for carrier screening?
Yes, it can identify carriers of a single GLB1 mutation. However, carrier screening should be offered with genetic counselling, and ideally both partners should be tested.
What are the limitations of NGS genetic testing?
NGS may not detect large deletions or rearrangements, deep intronic mutations, repeat expansions, or structural variants. It also cannot assess enzyme function. A normal result does not exclude a non-genetic cause.
Will the test be covered by insurance?
Coverage depends on your individual insurance policy and the network. It is recommended to check with your insurer before testing.
Who should consider this test?
This test is suitable for individuals with clinical features suggestive of GM1 gangliosidosis, those with a family history of the condition, and couples who are at increased risk of passing on the disorder.
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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