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GLB1 Gene Mucopolysaccharidosis type 4B NGS Genetic Test

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GLB1 Gene Mucopolysaccharidosis type 4B NGS Genetic Test

Short Name: GLB1 MPS4B NGS Test

Also known as: Morquio Syndrome Type B, GLB1-Related Mucopolysaccharidosis

GLB1 Gene Mucopolysaccharidosis type 4B 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.

Next-Generation Sequencing (NGS)All Ages🏠 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 accurately diagnose Mucopolysaccharidosis type 4B by detecting pathogenic variants in the GLB1 gene using Next-Generation Sequencing. It aids in confirming clinical suspicion, identifying carriers, and guiding treatment and management strategies for affected individuals and families.

Test Code
2189
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)
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications. No specific fasting required, but maintain normal hydration.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card spotting in a sterile environment by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to puncture site to prevent bruising. Sample sent to lab under stable conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss test purpose, implications, and consent. No special preparation is typically needed, but inform the doctor of any medications or health conditions.
2
During the Test:A blood sample is drawn from the patient's vein or collected via FTA card. The process is quick and minimally invasive, taking about 10-15 minutes.
3
After the Test:Results are available in 3-4 weeks. A genetic counselor will help interpret results and discuss next steps, including treatment options or further testing if needed.

About This Test

Who Should Get This Test

The purpose of this test is to accurately diagnose Mucopolysaccharidosis type 4B by detecting pathogenic variants in the GLB1 gene using Next-Generation Sequencing. It aids in confirming clinical suspicion, identifying carriers, and guiding treatment and management strategies for affected individuals and families.

How to Prepare

  • Ensure patient identification and consent
  • Use appropriate collection container (EDTA tube or FTA card)
  • Label sample correctly with patient details
  • Transport sample to lab within specified stability period

Doctor's Notes

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

"Early genetic testing for MPS4B is vital for timely management, family planning, and informed decision-making regarding treatment options like supportive care and enzyme replacement therapy."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood in EDTA tube: stable for 7 days at 2-8°C
DNA extracted: stable for 30 days at -20°C
FTA card: stable at room temperature for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the GLB1 Gene NGS Genetic Test indicate the presence or absence of mutations in the GLB1 gene associated with Mucopolysaccharidosis type 4B. Interpretation should be done by a genetic specialist in the context of clinical findings.
📊

No Pathogenic Variants Detected

Suggests absence of known MPS4B-causing mutations; clinical correlation needed if symptoms persist.

📊

Pathogenic Variant(s) Detected

Confirms diagnosis of MPS4B or carrier status; genetic counseling and management planning recommended.

📊

Variant of Uncertain Significance (VUS)

Further testing and family studies may be required to determine clinical significance.

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if symptoms of MPS4B are present, family history of the disorder, or if carrier screening is desired for family planning.

Limitations

  • ⚠May not detect all possible genetic variants due to technical limitations
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results do not predict disease severity or progression accurately

Risks & Considerations

  • ●Minor bruising or soreness at blood draw site
  • ●Very rare risk of infection or fainting during venipuncture

Interfering Factors

  • ●Degraded DNA quality from improper sample handling
  • ●Sample contamination during collection or transport
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestGLB1 Gene Mucopolysaccharidosis type 4B NGS Genetic Test
ComparisonGLB1 Gene Mucopolysaccharidosis type 4B NGS Genetic Test

Frequently Asked Questions

What is Mucopolysaccharidosis type 4B?
MPS4B is a rare genetic disorder caused by mutations in the GLB1 gene, leading to beta-galactosidase deficiency and accumulation of glycosaminoglycans, resulting in multisystem symptoms.
What does the GLB1 gene do?
The GLB1 gene provides instructions for making beta-galactosidase, an enzyme that breaks down glycosaminoglycans in lysosomes; defects cause MPS4B.
How is the NGS genetic test performed?
NGS technology sequences the GLB1 gene from a blood or DNA sample to identify mutations; it is highly accurate and can detect various variant types.
Who should get tested for MPS4B?
Individuals with symptoms like skeletal abnormalities, joint issues, or developmental delays, or those with a family history of MPS4B, should consider testing.
What are the symptoms of MPS4B?
Symptoms include short stature, joint stiffness, thickened skin, enlarged liver/spleen, delayed development, vision/hearing problems, and respiratory issues.
How accurate is this genetic test?
The NGS-based test has high sensitivity and specificity, detecting over 99% of known GLB1 mutations, but accuracy depends on sample quality and variant type.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, which includes sample collection, analysis, and report delivery.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings in numerous cities.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample receipt.
What do positive results mean?
Positive results indicate pathogenic GLB1 gene mutations, confirming MPS4B diagnosis or carrier status; genetic counseling is essential for interpretation.
Can this test be used for carrier screening?
Yes, the test can identify carriers of MPS4B mutations, aiding in family planning and risk assessment.
What are the treatment options for MPS4B?
Treatment is supportive and may include enzyme replacement therapy, physical therapy, surgical interventions, and regular monitoring by a multidisciplinary team.
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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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.

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✓ 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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