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CLCN7 Gene Osteopetrosis, autosomal recessive type 4 NGS Genetic Test

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CLCN7 Gene Osteopetrosis, autosomal recessive type 4 NGS Genetic Test

Short Name: CLCN7 Osteopetrosis AR Type 4 NGS Test

Also known as: Marble Bone Disease, Autosomal Recessive Osteopetrosis Type 4

CLCN7 Gene Osteopetrosis, autosomal recessive type 4 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 from sample receipt. 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 identify pathogenic mutations in the CLCN7 gene for accurate diagnosis of autosomal recessive osteopetrosis type 4, enabling early intervention and genetic counseling.

Test Code
2448
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and family history.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected by trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Sample labeled and transported to laboratory under controlled conditions for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and review of clinical history and family pedigree.
2
During the Test:Blood sample collection and processing for NGS analysis.
3
After the Test:Report generation, interpretation by geneticist, and follow-up consultation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the CLCN7 gene for accurate diagnosis of autosomal recessive osteopetrosis type 4, enabling early intervention and genetic counseling.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription
  • Avoid strenuous activity before sample collection

Doctor's Notes

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

"Early genetic testing for CLCN7 mutations is crucial for timely diagnosis and management of osteopetrosis, helping to prevent complications like fractures and anemia."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood: 2-8°C for up to 24 hours
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CLCN7 gene, which are associated with autosomal recessive osteopetrosis type 4.
📊

Positive

Pathogenic variant detected, confirming diagnosis of CLCN7 gene osteopetrosis. Consult a geneticist for management.

📊

Negative

No pathogenic variants detected. Clinical correlation recommended if symptoms persist.

📊

Variant of Uncertain Significance

Genetic variant found but significance unclear. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of osteopetrosis are present, for family planning, or if a family member has been diagnosed with the condition.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results
  • ●Implications for family members

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage

Compare With Similar Tests

TestCLCN7 Gene Osteopetrosis, autosomal recessive type 4 NGS Genetic TestX-ray ImagingBone Density Scan (DEXA)Complete Blood Count (CBC)
ComparisonCLCN7 Gene Osteopetrosis, autosomal recessive type 4 NGS Genetic Test

Frequently Asked Questions

What is CLCN7 Gene Osteopetrosis?
It is a rare genetic disorder caused by mutations in the CLCN7 gene, leading to increased bone density and brittleness, known as autosomal recessive osteopetrosis type 4.
What are the common symptoms?
Symptoms include delayed growth, frequent fractures, anemia, infections, visual or hearing impairment, enlarged liver and spleen, and neurological issues.
How is the test performed?
The test uses Next Generation Sequencing (NGS) to analyze the CLCN7 gene from a blood or DNA sample for mutations.
What is the cost of the test?
The NGS Genetic Test costs INR 20000 at DNA Labs India, with home sample collection available.
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 within 3 to 4 weeks after sample collection.
Is genetic testing covered by insurance?
Genetic testing may not be covered by insurance; patients should check with their provider for coverage details.
What should I do before the test?
A genetic counseling session is recommended to discuss family history and test implications.
Are there any risks?
Risks are minimal, mainly related to blood draw, but genetic results may have psychological and familial implications.
Can this test be used for prenatal diagnosis?
This test is not validated for prenatal diagnosis; consult a geneticist for prenatal options.
What is the accuracy of the test?
NGS genetic testing is highly accurate for detecting mutations in the CLCN7 gene, but no test is 100% infallible.
How can I book the test?
You can book online through DNA Labs India's website or contact their customer service 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.

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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.

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