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EDN3 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

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EDN3 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

Short Name: EDN3 CHS NGS Test

Also known as: Ondine's Curse, Congenital Central Hypoventilation Syndrome

EDN3 Gene Central hypoventilation syndrome, congenital 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🏠 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

The purpose of this test is to identify mutations in the EDN3 gene and other genes associated with congenital central hypoventilation syndrome using NGS technology, enabling accurate diagnosis, risk assessment, and informed clinical decision-making.

Test Code
5702
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. No fasting required.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation and delivery; follow-up consultation advised for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the EDN3 gene and other genes associated with congenital central hypoventilation syndrome using NGS technology, enabling accurate diagnosis, risk assessment, and informed clinical decision-making.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection equipment
  • Transport samples at ambient temperature unless specified

Doctor's Notes

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

"Early genetic testing for congenital CHS is crucial for timely intervention and family planning. Consult a specialist if symptoms are observed."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Refrigerated
Dry storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the EDN3 gene and associated genes. A positive result confirms genetic basis for CHS, while a negative result may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of congenital CHS due to EDN3 mutation. Genetic counseling and management recommended.

📊

No pathogenic variant detected

EDN3-related CHS unlikely. Consider other genetic or non-genetic causes.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms persist, test results are positive, or for family planning advice.

Limitations

  • ⚠May not detect all genetic variants or novel mutations
  • ⚠Results require correlation with clinical findings and family history
  • ⚠Does not rule out other causes of hypoventilation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Technical errors in sequencing

Compare With Similar Tests

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ComparisonEDN3 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

Frequently Asked Questions

What is the EDN3 Gene Central Hypoventilation Syndrome NGS Genetic Test?
It is a next-generation sequencing test that analyzes the EDN3 gene and other associated genes to diagnose congenital central hypoventilation syndrome (CHS), a rare disorder affecting breathing control.
Who should consider this test?
Individuals with symptoms like difficulty breathing during sleep, irregular breathing patterns, low heart rate, or a family history of CHS, especially in pediatric cases.
What is the cost of the test in India?
The test costs INR 20000, with home sample collection available across India at no extra charge.
How is the sample collected?
Samples can be collected via blood draw (venipuncture) or using one drop of blood on an FTA card, with home collection options.
What does the test detect?
It detects mutations in the EDN3 gene and other genes linked to congenital CHS, providing a definitive genetic diagnosis.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What if the test result is positive?
A positive result confirms a genetic cause for CHS. Genetic counseling and medical management by a specialist are recommended.
Can this test be used for prenatal diagnosis?
Yes, with appropriate genetic counseling, it can be used for prenatal testing in families with a history of CHS.
Is the test covered by insurance?
Coverage varies by insurance provider. It is advisable to check with your insurer or inquire about available schemes like PMJAY or CGHS.
What are the limitations of the test?
The test may not detect all genetic variants, and results should be correlated with clinical findings. It does not rule out other causes of hypoventilation.
How accurate is NGS for genetic testing?
NGS is highly accurate for detecting known mutations, but interpretation requires expertise. DNA Labs India ensures quality control and validation.
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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