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CFTR Gene Congenital bilateral absence of vas deferens NGS Genetic Test

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CFTR Gene Congenital bilateral absence of vas deferens NGS Genetic Test

Short Name: CFTR CBAVD NGS Test

Also known as: CFTR Gene Test for CBAVD, CBAVD Genetic Test, CFTR Mutation Analysis

CFTR Gene Congenital bilateral absence of vas deferens NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

Genetic TestMaleAdult🏠 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

To identify mutations in the CFTR gene that cause Congenital Bilateral Absence of Vas Deferens, aiding in diagnosis, management of male infertility, and risk assessment for cystic fibrosis.

Test Code
5523
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 (Next-Generation Sequencing)
Step 1

Sample Collection

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

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample drawn from vein via venipuncture or one drop of blood on FTA card.

Step 3

Report Delivery

Apply pressure to puncture site to stop bleeding. Sample is sent to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Blood sample collected via venipuncture or FTA card. Minimal discomfort.
3
After the Test:Resume normal activities. Monitor puncture site for any issues.

About This Test

Who Should Get This Test

To identify mutations in the CFTR gene that cause Congenital Bilateral Absence of Vas Deferens, aiding in diagnosis, management of male infertility, and risk assessment for cystic fibrosis.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly
  • Follow standard phlebotomy procedures

Doctor's Notes

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

"This test is essential for diagnosing CBAVD in men with infertility, helping guide treatment options like assisted reproduction and assessing cystic fibrosis risk."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood: 2-8°C for 48 hours
FTA card: Room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect sample type
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of CFTR gene mutations associated with Congenital Bilateral Absence of Vas Deferens.
📊

Positive

Pathogenic mutation detected, consistent with CBAVD. Consult a geneticist for further management.

📊

Negative

No pathogenic mutations detected. Clinical correlation needed as other genetic or non-genetic factors may be involved.

📊

Variant of uncertain significance

Genetic variant found but clinical significance unknown. Repeat testing or family studies may be recommended.

⚠️ When to Consult a Doctor:

If results are positive, or if infertility persists despite negative results, consult a geneticist, urologist, or reproductive specialist for personalized advice.

Limitations

  • ⚠May not detect all rare variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Does not rule out other causes of infertility

Risks & Considerations

  • ●Bruising at puncture site
  • ●Rare infection risk
  • ●Minimal pain during blood draw

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

TestCFTR Gene Congenital bilateral absence of vas deferens NGS Genetic Test
ComparisonCFTR Gene Congenital bilateral absence of vas deferens NGS Genetic TestLess comprehensive than NGS; may miss some mutations.Targets specific mutations; NGS covers entire gene for broader detection.Detects chromosomal abnormalities, not specific gene mutations.More extensive but costlier; NGS is targeted for CFTR gene.

Frequently Asked Questions

What is the CFTR Gene CBAVD NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the CFTR gene associated with Congenital Bilateral Absence of Vas Deferens, a condition causing male infertility.
Who should get this test?
Men with infertility, suspected CBAVD, family history of cystic fibrosis or CBAVD, or symptoms like low sperm count or testicular pain.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to sequence the entire CFTR gene and identify mutations.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Positive results indicate CFTR mutations linked to CBAVD; negative results suggest no mutations, but clinical correlation is needed.
Is the test accurate?
Yes, NGS is highly accurate and can detect a wide range of mutations, including those missed by other tests.
What are the risks of the test?
Risks are minimal, such as bruising or infection at the blood draw site.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India.
Is home collection available?
Yes, free home sample collection is available for online bookings across India.
What should I do after receiving the results?
Consult a healthcare provider or genetic counselor to interpret results and discuss next steps for treatment or family planning.
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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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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