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MAFB Gene Multicentric carpotarsal osteolysis syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MAFB Gene Multicentric carpotarsal osteolysis syndrome NGS Genetic Test

Short Name: MAFB Gene Test

Also known as: Multicentric Carpotarsal Osteolysis Syndrome, MAFB-related osteolysis, Carpotarsal osteolysis syndrome

MAFB Gene Multicentric carpotarsal osteolysis syndrome 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 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.

Next-Generation Sequencing🏠 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

To diagnose Multicentric Carpotarsal Osteolysis Syndrome by detecting mutations in the MAFB gene using NGS technology.

Test Code
5056
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history review and genetic counseling session recommended to draw a pedigree chart.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card, handled by trained professionals.

Step 3

Report Delivery

Sample is sent to the laboratory for DNA extraction and NGS analysis.

Timeline: 3-4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess symptoms and family history.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Result interpretation, genetic counseling, and follow-up with healthcare provider.

About This Test

Who Should Get This Test

To diagnose Multicentric Carpotarsal Osteolysis Syndrome by detecting mutations in the MAFB gene using NGS technology.

How to Prepare

  • Ensure proper sample handling and labeling
  • Follow instructions for FTA card if used
  • No fasting required

Doctor's Notes

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

"This test is crucial for confirming diagnosis, guiding family planning, and providing genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MAFB gene, confirming or ruling out Multicentric Carpotarsal Osteolysis Syndrome.
📊

Pathogenic variant detected

Confirms diagnosis of Multicentric Carpotarsal Osteolysis Syndrome; genetic counseling recommended.

📊

No pathogenic variant detected

Syndrome unlikely based on genetic testing; clinical correlation and further evaluation may be needed.

⚠️ When to Consult a Doctor:

If symptoms persist, if there is a family history of bone disorders, or for genetic counseling after test results.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising)
  • ●Psychological impact of genetic results; counseling provided

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Technical errors in sequencing

Compare With Similar Tests

TestMAFB Gene Multicentric carpotarsal osteolysis syndrome NGS Genetic Test
ComparisonMAFB Gene Multicentric carpotarsal osteolysis syndrome NGS Genetic TestShows bone loss but cannot confirm genetic cause; used for initial assessment.May cover multiple genes; this test specifically targets MAFB for focused diagnosis.

Frequently Asked Questions

What is MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome?
It is a rare genetic disorder causing progressive bone loss in hands and feet due to MAFB gene mutations.
What does the NGS Genetic Test involve?
It uses Next-Generation Sequencing to analyze the MAFB gene for mutations, providing high accuracy.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, including sample collection and analysis.
What are the symptoms of this syndrome?
Symptoms include pain, stiffness, deformity in hands/feet, difficulty gripping or walking, and progressive bone loss.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology in a certified lab.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What if the test result is positive?
A positive result confirms the diagnosis; genetic counseling and management options will be discussed.
Can this test be used for prenatal diagnosis?
It is primarily for postnatal diagnosis; consult a geneticist for prenatal testing options.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is advised to understand implications and guide decision-making.
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.

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.

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