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ECE1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

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ECE1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

Short Name: ECE1 Gene CCHS NGS Test

Also known as: Central Hypoventilation Syndrome, CCHS, Congenital Central Hypoventilation Syndrome

ECE1 Gene Central hypoventilation syndrome, congenital 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.

PediatricsPediatric🏠 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 diagnose congenital central hypoventilation syndrome caused by mutations in the ECE1 gene, facilitating early intervention, symptom management, and informed family planning.

Test Code
5699
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

No specific preparation is required. Provide clinical history and undergo genetic counseling as recommended.

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test purpose, provide informed consent, and share family medical history during genetic counseling.
2
During the Test:Sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Wait for results in 3-4 weeks; follow up with a genetic counselor or physician for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose congenital central hypoventilation syndrome caused by mutations in the ECE1 gene, facilitating early intervention, symptom management, and informed family planning.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples accurately
  • Transport samples at ambient temperature

Doctor's Notes

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

"This test is essential for early diagnosis and management of congenital central hypoventilation syndrome, aiding in timely intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the ECE1 gene associated with central hypoventilation syndrome. Positive results confirm diagnosis, while negative results may require further testing.
Positive result: Pathogenic variant detected, confirming CCHS diagnosis
Negative result: No pathogenic variant found, but clinical symptoms may warrant additional tests
Variant of uncertain significance: Requires further evaluation and genetic counseling
Consult a geneticist for comprehensive interpretation and management plans
⚠️ When to Consult a Doctor:

Consult a doctor immediately if symptoms such as breathing difficulties, low oxygen levels, or developmental delays are observed, or upon receiving positive test results.

Limitations

  • ⚠May not detect all mutations in the ECE1 gene
  • ⚠Cannot predict disease severity or progression
  • ⚠Results require clinical correlation
  • ⚠Limited to known genetic variants in databases

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage
  • ●Recent blood transfusions

Compare With Similar Tests

TestECE1 Gene Central hypoventilation syndrome, congenital NGS Genetic TestPHOX2B Gene Test for CCHSWhole Exome SequencingRespiratory Panel Genetic TestChromosomal Microarray
ComparisonECE1 Gene Central hypoventilation syndrome, congenital NGS Genetic TestPHOX2B is another gene associated with CCHS; this test focuses on ECE1 mutations.Broader genetic analysis but more expensive; targeted NGS for ECE1 is cost-effective for suspected cases.Includes multiple genes for respiratory disorders; ECE1 test is specific for CCHS.Detects chromosomal abnormalities; not specific for single-gene disorders like CCHS.

Frequently Asked Questions

What is ECE1 Gene Central Hypoventilation Syndrome?
It is a rare genetic disorder affecting breathing during sleep due to mutations in the ECE1 gene, present from birth.
How is CCHS diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS, to identify mutations in the ECE1 gene.
What are the symptoms of CCHS?
Symptoms include difficulty breathing during sleep, irregular breathing patterns, low oxygen levels, temperature dysregulation, and poor growth.
What is the cost of the ECE1 gene test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can the test be done at home?
Yes, free home sample collection is offered across many cities in India.
What does a positive result mean?
A positive result confirms a mutation in the ECE1 gene, indicating CCHS diagnosis.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising.
Is genetic counseling provided?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss results.
What should I do after receiving results?
Consult a healthcare professional or geneticist for interpretation and management guidance.
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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