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ZFPM2 Gene Tetralogy of Fallot NGS Genetic Test

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ZFPM2 Gene Tetralogy of Fallot NGS Genetic Test

Short Name: ZFPM2 TOF NGS Test

Also known as: ZFPM2 Gene Mutation Test, TOF Genetic Test, Familial Tetralogy of Fallot Test

ZFPM2 Gene Tetralogy of Fallot 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 TestAll Ages🏠 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 detect mutations in the ZFPM2 gene associated with Tetralogy of Fallot, aiding in diagnosis, risk assessment, and family planning for congenital heart defects.

Test Code
5297
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 specific preparation required. Provide clinical history and genetic counseling details.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or saliva collected using a kit. Minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended. Provide detailed family medical history.
2
During the Test:Sample collection (blood or saliva) takes about 15-30 minutes. No invasive procedures involved.
3
After the Test:Results available in 3-4 weeks. Follow-up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the ZFPM2 gene associated with Tetralogy of Fallot, aiding in diagnosis, risk assessment, and family planning for congenital heart defects.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Use sterile collection tubes or FTA cards as provided
  • Follow aseptic techniques to avoid contamination
  • Transport sample to the lab within specified stability period

Doctor's Notes

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

"Genetic testing for ZFPM2 mutations can aid in early diagnosis, family planning, and personalized management of Tetralogy of Fallot, especially in cases with familial history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Blood in EDTA tube: Stable for 7 days at 2-8°C
FTA card: Stable at room temperature for extended periods
Extracted DNA: Stable for months at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or documentation
  • Sample contamination or degradation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ZFPM2 gene. A positive result suggests a genetic predisposition to Tetralogy of Fallot, while a negative result does not rule out other genetic or environmental causes.
Pathogenic variant detected: High risk for TOF; recommend genetic counseling and cardiac monitoring
Variant of uncertain significance (VUS): Further testing or family studies may be needed
No pathogenic variant: Lower genetic risk, but clinical correlation is essential
Consult a geneticist for comprehensive interpretation and management plans
⚠️ When to Consult a Doctor:

Consult a cardiologist or geneticist if results are positive, if there is a family history of heart defects, or if symptoms like cyanosis or poor growth persist.

Limitations

  • ⚠May not detect all genetic variants associated with TOF
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not replace clinical diagnosis or other cardiac evaluations
  • ⚠Limited to ZFPM2 gene; other genetic factors may be involved

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, soreness, or rare infection
  • ●Psychological impact of genetic results; counseling support available

Interfering Factors

  • ●Poor sample quality or insufficient DNA quantity
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions affecting DNA analysis
  • ●Technical limitations in detecting all mutation types

Compare With Similar Tests

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ComparisonZFPM2 Gene Tetralogy of Fallot NGS Genetic Test

Frequently Asked Questions

What is the ZFPM2 Gene Tetralogy of Fallot NGS Genetic Test?
It is a Next-Generation Sequencing test that detects mutations in the ZFPM2 gene, which are linked to Tetralogy of Fallot, a congenital heart defect.
Who should consider this genetic test?
Individuals with a family history of Tetralogy of Fallot, newborns with cyanosis, or those suspected of having genetic cardiac defects based on clinical evaluation.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used. Home collection is available.
How accurate is the NGS Genetic Test?
The test uses advanced sequencing technology for high accuracy in detecting ZFPM2 mutations, but results should be interpreted by a genetic specialist.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and reporting.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What do the results indicate?
Results show whether pathogenic mutations in the ZFPM2 gene are detected, which can indicate a genetic risk for Tetralogy of Fallot.
Can this test diagnose Tetralogy of Fallot?
It identifies genetic predispositions but does not replace clinical diagnosis through echocardiogram or other cardiac assessments.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising. Genetic counseling is provided to address psychological aspects.
How should I prepare for the test?
No special preparation is needed. Provide clinical history and attend a genetic counseling session if recommended.
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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