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SOST Gene Van Buchem disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SOST Gene Van Buchem disease NGS Genetic Test

Also known as: Van Buchem Disease Genetic Test, SOST Gene Mutation Test

SOST Gene Van Buchem disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Van Buchem Disease by identifying mutations in the SOST gene using NGS technology.

Test Code
5163
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Blood Draw

Step 2

Laboratory Analysis

Blood sample collection via venipuncture.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and review of clinical history.
2
During the Test:Blood sample collection.
3
After the Test:Wait for results and consult a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose Van Buchem Disease by identifying mutations in the SOST gene using NGS technology.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription if available

Doctor's Notes

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

"Genetic testing for Van Buchem Disease is crucial for accurate diagnosis, family planning, and management of this rare bone disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of mutations in the SOST gene associated with Van Buchem Disease.
Positive result: Pathogenic mutation detected, confirming Van Buchem Disease.
Negative result: No pathogenic mutations detected, but clinical correlation is advised.
Variant of uncertain significance: Further testing or consultation may be needed.
⚠️ When to Consult a Doctor:

If symptoms of Van Buchem Disease are present, such as bone overgrowth or pain, or if there is a family history of the disorder.

Risks & Considerations

  • ●Bruising at puncture site
  • ●Minimal risk of infection

Frequently Asked Questions

What is the SOST Gene Van Buchem Disease NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the SOST gene, which causes Van Buchem Disease, a rare bone disorder.
What are the symptoms of Van Buchem Disease?
Symptoms include bone overgrowth, thickening of the skull, bone pain, difficulty walking, nerve compression, and reduced joint mobility.
How is Van Buchem Disease diagnosed?
Diagnosis involves physical examination, imaging tests like X-rays and CT scans, and genetic testing to confirm SOST gene mutations.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection and laboratory analysis.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3-4 weeks.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
Is the test covered by insurance?
The test is not covered by insurance, and patients need to pay out of pocket.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the SOST gene, confirming Van Buchem Disease.
Can the test be used for family planning?
Yes, genetic testing can help in family planning by identifying carriers and assessing risk.
What files are provided with the report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test report for transparency.
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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