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ZFPM2 Gene Diaphragmatic hernia type 3 NGS Genetic Test

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ZFPM2 Gene Diaphragmatic hernia type 3 NGS Genetic Test

ZFPM2 Gene Diaphragmatic hernia type 3 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.

CardiologistAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the ZFPM2 gene to confirm a diagnosis of diaphragmatic hernia type 3, guide treatment decisions, and facilitate genetic counseling for affected families.

Test Code
5249
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

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

Step 2

Laboratory Analysis

Standard blood draw or collection of one drop of blood on an FTA card.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis in the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Blood sample collection is performed, which is a minimally invasive procedure.
3
After the Test:Results are available in 3 to 4 weeks, and genetic counseling is advised for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the ZFPM2 gene to confirm a diagnosis of diaphragmatic hernia type 3, guide treatment decisions, and facilitate genetic counseling for affected families.

How to Prepare

  • Use blood, extracted DNA, or one drop of blood on an FTA card
  • Ensure proper labeling and handling of the sample

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the ZFPM2 gene.
Positive result: Pathogenic variant detected, indicating a genetic cause for diaphragmatic hernia type 3
Negative result: No pathogenic variants detected, but clinical correlation is needed
Variant of uncertain significance: Further testing or family studies may be required
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of diaphragmatic hernia are present, or if there is a family history of the condition, to discuss testing and management options.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic causes of diaphragmatic hernia

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Risk of infection is minimal with proper technique

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Technical errors in sequencing

Frequently Asked Questions

What is the ZFPM2 Gene Diaphragmatic Hernia Type 3 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to identify mutations in the ZFPM2 gene, which is associated with diaphragmatic hernia type 3, a condition where abdominal organs move into the chest cavity.
Why is this test recommended?
This test is recommended for individuals with symptoms of diaphragmatic hernia, a family history of the condition, or to confirm a clinical diagnosis for better management and genetic counseling.
What are the symptoms of diaphragmatic hernia type 3?
Symptoms include difficulty breathing, rapid breathing, bluish skin color, increased heart rate, abdominal swelling, and feeding difficulties, often presenting in newborns or infants.
How is the test performed?
The test involves collecting a blood sample, extracted DNA, or one drop of blood on an FTA card, which is then analyzed using NGS technology to detect gene mutations.
What is the cost of the test?
The cost of the ZFPM2 Gene Diaphragmatic Hernia Type 3 NGS Genetic Test at DNA Labs India is INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India, making it convenient for patients.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection, and can be accessed online, via email, or WhatsApp.
What do the test results mean?
A positive result indicates a pathogenic variant in the ZFPM2 gene, suggesting a genetic cause for diaphragmatic hernia. A negative result means no variants were detected, but clinical correlation is advised.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand the implications of the results, family risks, and management options.
Can this test be done during pregnancy?
This test is typically performed on affected individuals or those with symptoms, but prenatal testing may be possible through consultation with a genetic specialist.
What are the risks of the test?
The test involves a standard blood draw, which carries minimal risks such as minor bruising or discomfort. There are no significant health risks associated with the genetic analysis itself.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting genetic variants, but accuracy depends on sample quality and interpretation by qualified professionals. It is a reliable method for genetic diagnosis.
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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✓ 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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