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DNA Labs India

MANBAL Gene Mannosidosis, beta A, lysosomal-like NGS Genetic Test

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MANBAL Gene Mannosidosis, beta A, lysosomal-like NGS Genetic Test

Short Name: MANBAL NGS Genetic Test

Also known as: Beta-mannosidosis Genetic Test, MANBAL Gene Analysis

MANBAL Gene Mannosidosis, beta A, lysosomal-like NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

Genetic TestUnisexAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the MANBAL gene mannosidosis NGS genetic test is to detect mutations in the MANBAL gene for the diagnosis of beta-mannosidosis, a rare lysosomal storage disorder. It aids in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

Test Code
2132
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
NGS Technology
Step 1

Sample Collection

No special preparation is required. Ensure accurate medical history is provided and avoid certain medications if advised by a healthcare provider.

Method: Blood Sample Collection

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using standard venipuncture procedures.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule the test after a consultation with a genetic counselor. No fasting or special preparation needed.
2
During the Test:Sample collection takes about 10-15 minutes. The process is minimally invasive with low risk.
3
After the Test:Results will be available in 3-4 weeks. Follow up with a healthcare professional for interpretation.

About This Test

Who Should Get This Test

The purpose of the MANBAL gene mannosidosis NGS genetic test is to detect mutations in the MANBAL gene for the diagnosis of beta-mannosidosis, a rare lysosomal storage disorder. It aids in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Fast if required, but not necessary for this test
  • Provide complete clinical and family history
  • Avoid blood-thinning medications unless prescribed

Doctor's Notes

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

"This test is crucial for early diagnosis of beta-mannosidosis, enabling timely management, genetic counseling, and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Sample Collection

Sample Stability

Blood sample stable for 48 hours at ambient room temperature
Extracted DNA stable for extended periods when stored properly
Sample Rejection Criteria:
  • Clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or container

Understanding Your Results

Interpretation of results should be performed by a qualified geneticist or healthcare professional. Results indicate the presence or absence of mutations in the MANBAL gene.
Positive Result: Pathogenic variant detected, confirming diagnosis of beta-mannosidosis
Negative Result: No pathogenic variants detected, reducing likelihood of the disorder
Variant of Uncertain Significance (VUS): Mutation found but clinical significance is unclear; further testing recommended
⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibit symptoms such as developmental delays, intellectual disability, seizures, or other signs of beta-mannosidosis, or if there is a family history of the disorder.

Limitations

  • May not detect all types of mutations, such as large deletions or duplications
  • Requires interpretation by a genetic specialist
  • Variant of uncertain significance may require further testing

Risks & Considerations

  • Minimal risks from blood draw: bruising, swelling, or infection at puncture site
  • Potential psychological impact of results; genetic counseling recommended

Interfering Factors

  • Sample degradation or contamination
  • Hemolysis in blood sample
  • Improper storage conditions

Compare With Similar Tests

TestMANBAL Gene Mannosidosis, beta A, lysosomal-like NGS Genetic TestAlpha-mannosidosis Genetic TestLysosomal Storage Disorder PanelWhole Exome Sequencing
ComparisonMANBAL Gene Mannosidosis, beta A, lysosomal-like NGS Genetic Test

Frequently Asked Questions

What is MANBAL gene mannosidosis?
MANBAL gene mannosidosis is a rare genetic disorder caused by mutations in the MANBAL gene, leading to deficiency of beta-mannosidase enzyme and resulting in beta-mannosidosis, which affects multiple body systems.
What are the symptoms of beta-mannosidosis?
Common symptoms include developmental delays, intellectual disability, seizures, abnormal facial features, enlarged liver and spleen, joint stiffness, and reduced muscle tone.
How is the MANBAL gene test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze DNA from a blood or saliva sample for mutations in the MANBAL gene.
What is the cost of the MANBAL gene test?
The cost of the test at DNA Labs India is INR 20,000, with free home sample collection available across India.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should undergo this test?
Individuals showing symptoms of beta-mannosidosis or those with a family history of the disorder should consider this test after consulting a healthcare professional.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the MANBAL gene, confirming a diagnosis of beta-mannosidosis and guiding further management.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. Prenatal testing may require specialized procedures like chorionic villus sampling; consult a genetic counselor.
Is the test covered by insurance?
Coverage depends on insurance plans. It is advisable to check with your provider for specific coverage details.
How accurate is the NGS genetic test?
NGS technology provides high accuracy in detecting mutations, but interpretation should be done by a genetic specialist to account for variants of uncertain significance.
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

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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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