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CLCN7 Gene Osteopetrosis, autosomal dominant type 1 NGS Genetic Test

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CLCN7 Gene Osteopetrosis, autosomal dominant type 1 NGS Genetic Test

Also known as: Autosomal Dominant Osteopetrosis Type 1, CLCN7 Osteopetrosis

CLCN7 Gene Osteopetrosis, autosomal dominant type 1 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

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose autosomal dominant type 1 osteopetrosis caused by CLCN7 gene mutations, enabling early intervention and genetic counseling.

Test Code
2461
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 CLCN7 gene osteopetrosis.

Method: Blood Draw or DNA Extraction

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:Clinical history review and genetic counseling session to assess family history and draw a pedigree chart.

About This Test

Who Should Get This Test

To diagnose autosomal dominant type 1 osteopetrosis caused by CLCN7 gene mutations, enabling early intervention and genetic counseling.

How to Prepare

  • Provide blood sample or extracted DNA
  • Ensure proper labeling and documentation
  • Follow aseptic techniques during collection

Doctor's Notes

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

"This test is crucial for early diagnosis and management of osteopetrosis. Consult a genetic counselor for personalized advice and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CLCN7 gene, which are associated with autosomal dominant type 1 osteopetrosis.
📊

Pathogenic variant detected

Confirms diagnosis of CLCN7 gene osteopetrosis. Genetic counseling and clinical management are recommended.

📊

No pathogenic variant detected

Osteopetrosis due to CLCN7 mutations is unlikely. Consider other genetic or clinical evaluations if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms of osteopetrosis are present, such as frequent fractures or delayed growth, or if there is a family history of the condition.

Risks & Considerations

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

Frequently Asked Questions

What is CLCN7 Gene Osteopetrosis?
CLCN7 Gene Osteopetrosis is a rare genetic disorder caused by mutations in the CLCN7 gene, leading to increased bone density and associated symptoms like fractures and growth delays.
What are the symptoms of CLCN7 Gene Osteopetrosis?
Common symptoms include frequent fractures, delayed growth, dental problems, hearing loss, visual impairments, and abnormalities in blood cell production.
How is CLCN7 Gene Osteopetrosis diagnosed?
Diagnosis is through Next-Generation Sequencing (NGS) genetic testing, which sequences the CLCN7 gene to identify pathogenic mutations.
What is the cost of the NGS Genetic Test for CLCN7 Gene Osteopetrosis in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
How long does it take to get the test results?
Reports are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive test result mean?
A positive result indicates the presence of pathogenic CLCN7 gene mutations, confirming a diagnosis of autosomal dominant type 1 osteopetrosis.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss implications before testing.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes; prenatal testing may require specialized consultation with a genetic counselor.
What are the treatment options for CLCN7 Gene Osteopetrosis?
Treatment focuses on managing symptoms, such as fracture prevention, dental care, and monitoring for complications. Consult a healthcare provider for personalized plans.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy. It is not typically covered under government schemes like PMJAY or CGHS; check with your insurer.
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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