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OSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic Test

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OSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic Test

Short Name: OSTM1 Gene Test

Also known as: Marble Bone Disease, Autosomal Recessive Osteopetrosis Type 5

OSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the OSTM1 Gene Osteopetrosis NGS Genetic Test is to detect mutations in the OSTM1 gene, confirming a diagnosis of autosomal recessive type 5 osteopetrosis. This test aids in early identification, guides treatment decisions, and supports genetic counseling for affected families.

Test Code
2450
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture, or an extracted DNA or FTA card sample may be used.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as instructed and await report delivery in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand the test implications and provide family history. No fasting required.
2
During the Test:Sample collection via blood draw or alternative methods. The process is quick and minimally invasive.
3
After the Test:Resume normal activities. Monitor the puncture site for any discomfort. Await results in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the OSTM1 Gene Osteopetrosis NGS Genetic Test is to detect mutations in the OSTM1 gene, confirming a diagnosis of autosomal recessive type 5 osteopetrosis. This test aids in early identification, guides treatment decisions, and supports genetic counseling for affected families.

How to Prepare

  • Ensure sample is collected in a sterile environment
  • Label sample correctly with patient details
  • Transport sample at ambient room temperature
  • Avoid hemolysis during blood collection

Doctor's Notes

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

"Genetic testing for OSTM1 gene mutations is crucial for early diagnosis, management, and genetic counseling in families affected by osteopetrosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample volume
  • Improperly labeled or contaminated samples
  • Sample not stored at recommended conditions

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the OSTM1 gene. A positive result confirms autosomal recessive type 5 osteopetrosis, while a negative result may require further testing if clinical suspicion remains high.
Positive result: Pathogenic mutation detected, confirming diagnosis. Refer for management and genetic counseling.
Negative result: No pathogenic variants found. Consider other genetic tests or clinical evaluation.
Variant of uncertain significance: Further analysis or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a healthcare professional if you experience symptoms such as recurrent fractures, bone pain, hearing or vision loss, or if there is a family history of osteopetrosis. After testing, discuss results with a geneticist or specialist for appropriate management.

Limitations

  • ⚠May not detect all possible mutations in the OSTM1 gene
  • ⚠Results require interpretation by a geneticist or healthcare professional
  • ⚠Does not rule out other genetic causes of osteopetrosis

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Improper storage conditions affecting DNA integrity
  • ●Use of certain medications that may alter genetic expression (rare)

Compare With Similar Tests

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ComparisonOSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic Test

Frequently Asked Questions

What is OSTM1 gene osteopetrosis?
OSTM1 gene osteopetrosis is a rare autosomal recessive genetic disorder (type 5) that causes abnormally dense bones due to mutations in the OSTM1 gene, leading to impaired bone remodeling.
What are the common symptoms of OSTM1 gene osteopetrosis?
Symptoms include recurrent fractures, abnormal bone growth, dental problems, hearing loss, vision issues, anemia, and neurological symptoms like seizures or developmental delays.
How is OSTM1 gene osteopetrosis diagnosed?
Diagnosis involves clinical examination, imaging tests (X-rays, CT scans), and genetic testing such as NGS to confirm mutations in the OSTM1 gene.
What is the cost of the OSTM1 Gene Osteopetrosis NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What should I do before getting tested?
Provide clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.
Can this test detect all mutations in the OSTM1 gene?
NGS testing is comprehensive but may not detect all possible mutations; results should be interpreted by a geneticist.
Is genetic counseling recommended after testing?
Yes, genetic counseling is recommended to understand results, implications, and for family planning.
What are the risks associated with this test?
Risks are minimal, primarily related to blood draw, such as bruising or infection. Genetic testing itself poses no significant risks.
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

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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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