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CA2 Gene Osteopetrosis, autosomal recessive type 3 NGS Genetic Test

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CA2 Gene Osteopetrosis, autosomal recessive type 3 NGS Genetic Test

Short Name: CA2 Gene Osteopetrosis Test

Also known as: Marble Bone Disease, Carbonic Anhydrase II Deficiency, Osteopetrosis Type 3

CA2 Gene Osteopetrosis, autosomal recessive type 3 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 this test is to detect mutations in the CA2 gene associated with autosomal recessive type 3 osteopetrosis. It helps in confirming diagnosis, identifying carriers, and guiding clinical management and genetic counseling.

Test Code
2451
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

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

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via standard venipuncture or FTA card method by a trained phlebotomist.

Step 3

Report Delivery

Sample sent to laboratory for analysis; results available in 3-4 weeks with genetic counseling follow-up.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a geneticist for counseling, discuss family history, and understand test implications.
2
During the Test:Simple blood draw or FTA card collection performed by a healthcare professional.
3
After the Test:Wait for results (3-4 weeks), followed by genetic counseling to interpret findings and plan next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the CA2 gene associated with autosomal recessive type 3 osteopetrosis. It helps in confirming diagnosis, identifying carriers, and guiding clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Early genetic testing for CA2 gene mutations can guide treatment and family planning, improving outcomes for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml of blood or as per FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood samples stable at room temperature for 48 hours
FTA cards stable for extended periods when stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the CA2 gene. Genetic counseling is essential to understand the implications for diagnosis, carrier status, and family planning.
📊

Pathogenic variant detected

Confirms diagnosis of autosomal recessive type 3 osteopetrosis

📊

Likely pathogenic variant detected

Suggests high probability of the condition; clinical correlation advised

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification

📊

No pathogenic variant detected

Condition unlikely, but clinical evaluation recommended if symptoms persist

⚠️ When to Consult a Doctor:

If symptoms of osteopetrosis are present, or for family planning if carrier status is identified through genetic testing.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires interpretation by a geneticist
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, soreness, or rare infection
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestCA2 Gene Osteopetrosis, autosomal recessive type 3 NGS Genetic Test
ComparisonCA2 Gene Osteopetrosis, autosomal recessive type 3 NGS Genetic Test

Frequently Asked Questions

What is CA2 gene osteopetrosis?
CA2 gene osteopetrosis is a rare genetic disorder caused by mutations in the CA2 gene, leading to autosomal recessive type 3 osteopetrosis, characterized by increased bone density and impaired bone resorption.
How is autosomal recessive type 3 osteopetrosis inherited?
It is inherited in an autosomal recessive pattern, meaning a person must inherit two mutated copies of the CA2 gene, one from each parent, to develop the condition.
What are the common symptoms of this condition?
Symptoms include delayed motor development, anemia, frequent infections, visual and hearing impairments, bone fractures, and abnormal spinal curvature.
How is the NGS genetic test performed?
The test uses Next-Generation Sequencing to analyze the CA2 gene from a blood or DNA sample, identifying mutations associated with osteopetrosis.
What is the cost of the CA2 gene osteopetrosis NGS test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available for this test?
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?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate the presence or absence of CA2 gene mutations, classified as pathogenic, likely pathogenic, variant of uncertain significance, or benign, requiring genetic counseling for interpretation.
Can carriers of the CA2 mutation have symptoms?
Carriers typically do not show symptoms of osteopetrosis but can pass the mutated gene to their offspring.
Is genetic counseling necessary before and after the test?
Yes, genetic counseling is recommended to understand the test implications, interpret results, and discuss family planning options.
Are there any risks associated with the genetic test?
The test involves minimal risks from blood draw, such as bruising; genetic testing itself poses no significant health risks.
How can this test help in family planning?
Identifying carrier status or confirming diagnosis allows for informed reproductive decisions, such as prenatal testing or preimplantation genetic diagnosis.
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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