Skip to main content
DNA Labs India

MTAP Gene Diaphyseal medullary stenosis with malignant fibrous histiocytoma NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MTAP Gene Diaphyseal medullary stenosis with malignant fibrous histiocytoma NGS Genetic Test

MTAP Gene Diaphyseal medullary stenosis with malignant fibrous histiocytoma 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the MTAP gene for diagnosis of diaphyseal medullary stenosis with malignant fibrous histiocytoma, aiding in clinical management and genetic counseling.

Test Code
4890
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation recommended.
2
During the Test:Sample collection via blood draw or DNA extraction.
3
After the Test:Results available in 3-4 weeks; follow-up counseling advised.

About This Test

Who Should Get This Test

To identify mutations in the MTAP gene for diagnosis of diaphyseal medullary stenosis with malignant fibrous histiocytoma, aiding in clinical management and genetic counseling.

How to Prepare

  • Sample can be blood, extracted DNA, or one drop blood on FTA card.
  • Ensure proper labeling and handling.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"As a referring specialist, I recommend this test for patients with suspected genetic skeletal disorders. Early diagnosis can guide management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MTAP gene.
📊

Normal

No pathogenic variants detected, reducing likelihood of the disorder.

📊

Abnormal

Pathogenic variant(s) identified, confirming diagnosis and guiding further management.

⚠️ When to Consult a Doctor:

If symptoms such as bone deformities, soft tissue masses, or family history of the disorder are present.

Risks & Considerations

  • Minimal physical risk from blood draw
  • Potential psychological impact of results

Frequently Asked Questions

What is MTAP Gene Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma?
It is a rare genetic disorder caused by MTAP gene mutations, leading to skeletal abnormalities and soft tissue tumors.
How is this disorder inherited?
It is typically inherited in an autosomal recessive pattern, but inheritance may vary; genetic counseling is advised.
What are the common symptoms?
Symptoms include short stature, bowing legs, limb pain, difficulty walking, fractures, bone deformities, and soft tissue masses.
How is the disorder diagnosed?
Diagnosis involves clinical evaluation, imaging tests like X-rays, and genetic testing such as NGS to identify MTAP gene mutations.
What is the NGS Genetic Test?
Next-Generation Sequencing (NGS) is a advanced genetic test that detects mutations in the MTAP gene for accurate diagnosis.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with possible insurance coverage.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to understand the test implications and draw a family pedigree chart.
Can this disorder be treated?
There is no cure, but management focuses on symptom relief, orthopedic interventions, and monitoring for complications.
What are the risks of genetic testing?
Risks are minimal, including potential psychological impact; counseling helps mitigate concerns.
How can I book the test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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.

Related Tests

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.