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DNA Labs India

SNX10 Gene Osteopetrosis of infancy, malignant NGS Genetic Test

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SNX10 Gene Osteopetrosis of infancy, malignant NGS Genetic Test

SNX10 Gene Osteopetrosis of infancy, malignant 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 TestInfants🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the SNX10 Gene Osteopetrosis of Infancy NGS Genetic Test is to diagnose mutations in the SNX10 gene that cause malignant osteopetrosis in infants, enabling early intervention and management.

Test Code
2455
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 family members affected with SNX10 Gene Osteopetrosis.

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:Provide clinical history and undergo genetic counseling.
2
During the Test:Sample collection via blood draw or DNA extraction.
3
After the Test:Wait for report delivery in 3 to 4 weeks and discuss results with a healthcare provider.

About This Test

Who Should Get This Test

The purpose of the SNX10 Gene Osteopetrosis of Infancy NGS Genetic Test is to diagnose mutations in the SNX10 gene that cause malignant osteopetrosis in infants, enabling early intervention and management.

How to Prepare

  • Sample can be blood, extracted DNA, or one drop blood on FTA card.

Doctor's Notes

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

"Genetic testing for SNX10 mutations is crucial for early diagnosis and management of osteopetrosis in infants. Consult a genetic counselor for personalized advice."

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 SNX10 gene. Consult a healthcare professional for interpretation.
📊

Positive for pathogenic variants

Confirms diagnosis of SNX10 Gene Osteopetrosis. Genetic counseling and management recommended.

📊

Negative for pathogenic variants

No mutations detected in SNX10 gene. Consider other genetic or clinical evaluations if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if an infant shows symptoms like brittle bones, delayed growth, anemia, or recurrent infections, or if there is a family history of osteopetrosis.

Risks & Considerations

  • Minimal physical risks from sample collection
  • Potential psychological impact of genetic results

Frequently Asked Questions

What is SNX10 Gene Osteopetrosis of Infancy?
It is a rare genetic disorder caused by mutations in the SNX10 gene, leading to abnormal bone development and brittle bones in infants.
How is SNX10 Gene Osteopetrosis inherited?
It is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for their child to be affected.
What are the common symptoms?
Symptoms include brittle bones prone to fractures, delayed growth, anemia, visual and hearing impairments, and recurrent infections.
How is the condition diagnosed?
Diagnosis is through genetic testing, such as NGS, to identify mutations in the SNX10 gene, often supplemented with X-rays or bone scans.
What is the cost of the NGS genetic test in India?
The cost is approximately INR 20,000, with free home sample collection available across many cities.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get the test results?
Reports are typically delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
What should I do before the test?
Provide the patient's clinical history and undergo a genetic counseling session to draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal, mainly related to sample collection, but there may be psychological impacts from the results.
Can SNX10 Gene Osteopetrosis be treated?
While there is no cure, management focuses on symptom relief, such as treating fractures and infections, and supportive care.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications and guide family planning.
Where can I get this test done?
The test is available at DNA Labs India with home collection in cities like Mumbai, Delhi, Bangalore, and many others listed on the website.
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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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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