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CFAP53 Gene Heterotaxy, visceral type 6 NGS Genetic Test

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CFAP53 Gene Heterotaxy, visceral type 6 NGS Genetic Test

Short Name: CFAP53 Heterotaxy Test

Also known as: CFAP53 Gene Test for Heterotaxy, Heterotaxy Type 6 NGS Test, Visceral Heterotaxy Genetic Test

CFAP53 Gene Heterotaxy, visceral type 6 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.

Next-Generation Sequencing (NGS) Genetic TestPediatric🏠 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 CFAP53 gene that cause Heterotaxy Syndrome, Visceral Type 6, aiding in accurate diagnosis, management, and genetic counseling for affected individuals and families.

Test Code
5762
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising and keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess symptoms and family history.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Analysis, report generation, and follow-up genetic counseling.

About This Test

Who Should Get This Test

To identify mutations in the CFAP53 gene that cause Heterotaxy Syndrome, Visceral Type 6, aiding in accurate diagnosis, management, and genetic counseling for affected individuals and families.

How to Prepare

  • Bring identification and prescription
  • Inform about any medications or health conditions
  • Ensure sample is collected in a sterile environment

Doctor's Notes

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

"This NGS-based test provides comprehensive analysis of the CFAP53 gene, essential for confirming heterotaxy diagnosis and informing family planning and management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Room Temperature
Refrigerated
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container or labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CFAP53 gene, which are associated with Heterotaxy Syndrome.
📊

Positive

Pathogenic variant detected, consistent with Heterotaxy Syndrome. Clinical correlation and genetic counseling recommended.

📊

Negative

No pathogenic variants detected, but clinical symptoms may warrant further evaluation.

📊

Variant of Uncertain Significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If you experience symptoms of heterotaxy, have a family history of the disorder, or receive a positive genetic test result.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a diagnostic tool for all forms of heterotaxy

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection or hematoma

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Compare With Similar Tests

TestCFAP53 Gene Heterotaxy, visceral type 6 NGS Genetic TestDNAI1 Gene TestHeterotaxy Gene Panel
ComparisonCFAP53 Gene Heterotaxy, visceral type 6 NGS Genetic TestTests for another gene associated with ciliopathies and heterotaxy.Comprehensive panel testing multiple genes related to heterotaxy for broader analysis.

Frequently Asked Questions

What is the CFAP53 Gene Heterotaxy Test?
It is an NGS genetic test that analyzes the CFAP53 gene to diagnose Heterotaxy Syndrome, Visceral Type 6, a rare disorder with abnormal organ arrangement.
What is the cost of the CFAP53 Gene Heterotaxy Test?
The test costs INR 20,000 at DNA Labs India, which includes home sample collection across India.
How is the test performed?
The test is performed on a blood sample or extracted DNA using Next-Generation Sequencing (NGS) technology to detect mutations in the CFAP53 gene.
What are the symptoms of Heterotaxy Syndrome?
Symptoms include abnormal organ arrangement, abnormal heart rhythm, difficulty breathing, poor growth, recurrent infections, and developmental delays.
Who should consider taking this test?
Individuals with symptoms of heterotaxy, a family history of the disorder, or inconclusive imaging results should consider genetic testing.
What is the turnaround time for 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 online bookings across numerous cities in India.
Are there any risks associated with the test?
Risks are minimal and may include minor bruising at the blood draw site or rare infection. Consult your healthcare provider for concerns.
How do I interpret the results?
Results indicate pathogenic variants in the CFAP53 gene. Genetic counseling is recommended to understand implications for diagnosis and management.
Is the test covered by insurance?
Coverage depends on your insurance policy. Check with your provider, as schemes like PMJAY, CGHS, ECHS, ESIC, and private insurance may vary.
What other tests are related to this one?
Related tests include DNAI1 Gene Test, CCDC39 Gene Test, ZIC3 Gene Test, and Heterotaxy Comprehensive Panel for broader genetic analysis.
How can I book the test?
You can book the test online through DNA Labs India's website or contact us via phone or WhatsApp 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.

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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