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CATSPER2 Gene Deafness and male infertility, CATSPER2 related NGS Genetic Test

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CATSPER2 Gene Deafness and male infertility, CATSPER2 related NGS Genetic Test

Short Name: CATSPER2 NGS Test

Also known as: CATSPER2 Genetic Test, Deafness-Infertility Genetic Test

CATSPER2 Gene Deafness and male infertility, CATSPER2 related 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 TestMaleAdults🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the CATSPER2 gene for the diagnosis of CATSPER2-related deafness and male infertility, enabling personalized medical management and reproductive planning.

Test Code
5527
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

No special preparation required. Genetic counseling session recommended to discuss family history and draw a pedigree chart.

Method: Venipuncture or DNA extraction

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample or guide DNA extraction from provided samples.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store samples as instructed for stability.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history, symptoms, and implications of testing. A pedigree chart may be drawn.
2
During the Test:Sample collection (blood or DNA) and analysis using NGS technology to sequence the CATSPER2 gene.
3
After the Test:Results are reviewed with a genetic counselor or physician to discuss findings, management options, and next steps.

About This Test

Who Should Get This Test

To identify mutations in the CATSPER2 gene for the diagnosis of CATSPER2-related deafness and male infertility, enabling personalized medical management and reproductive planning.

How to Prepare

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

Doctor's Notes

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

"Genetic testing for CATSPER2 mutations can provide crucial insights into unexplained male infertility and hearing loss, guiding personalized treatment plans."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or DNA extraction

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Contaminated samples
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CATSPER2 gene. Positive results may confirm a diagnosis of CATSPER2-related deafness and male infertility.
📊

Positive for pathogenic variant

Indicates increased risk for deafness and male infertility; further clinical evaluation and genetic counseling recommended.

📊

Negative for pathogenic variant

No mutations detected in the CATSPER2 gene; symptoms may be due to other causes.

📊

Variant of uncertain significance

Genetic variant identified but clinical significance unclear; additional testing and monitoring may be needed.

⚠️ When to Consult a Doctor:

If you experience symptoms of hearing loss or infertility, or have a family history of these conditions, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • May not detect all genetic variants
  • Requires genetic counseling for interpretation
  • Results may not predict disease severity

Risks & Considerations

  • Minor bruising or discomfort at blood draw site
  • Rare risk of infection
  • Psychological impact of results

Interfering Factors

  • Sample contamination
  • DNA degradation
  • Incorrect sample handling

Compare With Similar Tests

TestCATSPER2 Gene Deafness and male infertility, CATSPER2 related NGS Genetic TestKaryotype AnalysisY-Chromosome Microdeletion TestHearing Loss Genetic Panel
ComparisonCATSPER2 Gene Deafness and male infertility, CATSPER2 related NGS Genetic TestDetects chromosomal abnormalities, while CATSPER2 test focuses on specific gene mutations.Identifies deletions on the Y chromosome linked to infertility, whereas CATSPER2 test targets a single gene.Screens multiple genes for hearing loss, including CATSPER2, but may not cover infertility aspects.

Frequently Asked Questions

What is the CATSPER2 gene?
The CATSPER2 gene encodes a protein essential for sperm motility and inner ear function. Mutations can lead to deafness and male infertility.
How is CATSPER2-related deafness and male infertility diagnosed?
Diagnosis involves genetic testing using NGS to identify mutations in the CATSPER2 gene, along with clinical evaluation and family history.
What are the symptoms of CATSPER2 mutations?
Symptoms include low sperm count, poor sperm motility, abnormal sperm morphology, erectile dysfunction, progressive hearing loss, tinnitus, and difficulty understanding speech.
Who should consider this genetic test?
Men experiencing unexplained infertility or hearing loss, especially with a family history of these conditions, should consider this test.
What is the cost of the CATSPER2 NGS genetic test?
The test costs INR 20000, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What sample type is required?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications, results, and management options.
Can this test be covered by insurance?
Coverage varies by insurance plan. It is advisable to check with your provider for specific details.
What are the limitations of the test?
Limitations include potential inability to detect all genetic variants and the need for clinical correlation and genetic counseling.
How accurate is the CATSPER2 genetic test?
The test uses advanced NGS technology for high accuracy in detecting mutations, but results should be interpreted by a healthcare professional.
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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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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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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