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DNA Labs India

CFC1 Gene Heterotaxy, visceral type 2 NGS Genetic Test

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CFC1 Gene Heterotaxy, visceral type 2 NGS Genetic Test

Short Name: CFC1 Heterotaxy NGS Test

Also known as: CFC1 Mutation Analysis, Heterotaxy Type 2 Genetic Test, CFC1 Gene Sequencing

CFC1 Gene Heterotaxy, visceral type 2 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 TestPediatric and Adult🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify pathogenic mutations in the CFC1 gene associated with Heterotaxy, Visceral Type 2, aiding in diagnosis, genetic counseling, family planning, and personalized management strategies.

Test Code
5761
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

No special preparation required. Inform the laboratory about any medications, health conditions, or previous genetic tests.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm by a trained phlebotomist. For FTA card collection, a finger prick may be used.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Resume normal activities immediately. Keep the collection area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:A genetic counseling session will be conducted to discuss the test implications, family history, and draw a pedigree chart.
2
During the Test:Blood sample collection and processing for NGS analysis. The test is non-invasive and takes about 10-15 minutes for collection.
3
After the Test:Report generation within 3-4 weeks. Follow-up consultation to discuss results and next steps.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the CFC1 gene associated with Heterotaxy, Visceral Type 2, aiding in diagnosis, genetic counseling, family planning, and personalized management strategies.

How to Prepare

  • Ensure proper patient identification and labeling of samples
  • Use sterile equipment and follow aseptic techniques
  • Collect blood in EDTA tube or apply one drop to FTA card as specified
  • Transport samples to the lab at ambient temperature within 48 hours

Doctor's Notes

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

"Early genetic testing for heterotaxy can guide management and improve outcomes. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature (15-25°C)
Extracted DNA stable for up to 1 year when stored at -20°C
FTA card samples stable for several years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or documentation
  • Contaminated or degraded samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CFC1 gene. Interpretation should be done by a qualified geneticist or healthcare provider.
📊

Pathogenic variant detected

Confirms a diagnosis of Heterotaxy, Visceral Type 2 due to CFC1 mutation. Genetic counseling and further clinical evaluation recommended.

📊

No pathogenic variant detected

Reduces the likelihood of CFC1-related heterotaxy. Clinical symptoms may be due to other genetic or environmental factors; further testing may be considered.

📊

Variant of uncertain significance (VUS)

A genetic variant was found, but its clinical significance is unknown. Repeat testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like abnormal organ placement, heart defects, or if there is a family history of genetic disorders. After receiving test results, seek guidance from a geneticist or pediatrician for management options.

Limitations

  • May not detect all genetic variants or mutations in non-coding regions
  • Results require clinical correlation and may not confirm diagnosis alone
  • Does not rule out other genetic causes of heterotaxy or related conditions

Risks & Considerations

  • Minor bruising or pain at the blood draw site
  • Rare risk of infection or hematoma
  • No significant risks associated with genetic testing itself

Interfering Factors

  • Sample contamination during collection or processing
  • Degraded DNA due to improper storage
  • Technical errors in sequencing or data analysis

Compare With Similar Tests

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ComparisonCFC1 Gene Heterotaxy, visceral type 2 NGS Genetic Test

Frequently Asked Questions

What is CFC1 Gene Heterotaxy, Visceral Type 2?
It is a rare genetic condition caused by mutations in the CFC1 gene, leading to abnormal organ placement and various health issues like heart defects and digestive problems.
How is the NGS Genetic Test performed?
The test uses next-generation sequencing to analyze the DNA sequence of the CFC1 gene from a blood sample, identifying mutations associated with the condition.
What is the cost of the CFC1 Gene Heterotaxy Test?
The test costs INR 20,000 at DNA Labs India, which includes sample collection, testing, and report delivery.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across numerous cities in India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the common symptoms of CFC1 Gene Heterotaxy?
Symptoms include abnormal organ placement, heart defects, liver problems, digestive issues, respiratory problems, and delayed growth.
Who should consider getting this genetic test?
Individuals with symptoms of heterotaxy, a family history of the condition, or those undergoing evaluation for congenital abnormalities should consider testing.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the CFC1 gene, confirming a diagnosis of Heterotaxy, Visceral Type 2. Genetic counseling is recommended.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to discuss test implications, family history, and draw a pedigree chart.
Are there any risks associated with the genetic test?
The test involves a standard blood draw with minimal risks like bruising. Genetic testing itself poses no physical risks.
How accurate is the NGS test for detecting CFC1 mutations?
NGS is highly accurate for detecting known mutations, but may not identify all variants. Results should be interpreted clinically.
What should I do after receiving the test results?
Consult with a geneticist or pediatrician to understand the results, discuss management options, and consider family planning if needed.
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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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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