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ZEB2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

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ZEB2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

Short Name: ZEB2 CHS NGS Test

Also known as: Ondine's Curse, Congenital Central Hypoventilation Syndrome, ZEB2-related disorder

ZEB2 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the ZEB2 gene that cause congenital central hypoventilation syndrome, enabling accurate diagnosis, management, and genetic counseling.

Test Code
5709
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 undergo genetic counseling.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or finger prick.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide informed consent.
2
During the Test:Blood sample collection and processing for NGS analysis.
3
After the Test:Wait for results and follow up with genetic counseling.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the ZEB2 gene that cause congenital central hypoventilation syndrome, enabling accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label the sample correctly with patient details

Doctor's Notes

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

"Early genetic testing for ZEB2 mutations is essential for diagnosing congenital central hypoventilation syndrome, allowing for timely intervention and genetic counseling to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at appropriate storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results of the ZEB2 gene test should be interpreted by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
Negative result: No pathogenic variants detected in the ZEB2 gene. CHS may still be possible due to other genes.
Positive result: Pathogenic variant detected, confirming diagnosis of ZEB2-related CHS.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of CHS, have a family history, or receive a positive test result for genetic counseling and management.

Limitations

  • ⚠May not detect all possible variants in the ZEB2 gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestZEB2 Gene Central hypoventilation syndrome, congenital NGS Genetic TestPHOX2B Gene TestWhole Exome SequencingComprehensive Respiratory PanelSleep Study (Polysomnography)
ComparisonZEB2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

Frequently Asked Questions

What is ZEB2 Gene Central Hypoventilation Syndrome?
It is a rare genetic disorder caused by mutations in the ZEB2 gene, leading to inadequate breathing during sleep.
What are the symptoms of CHS?
Symptoms include difficulty breathing during sleep, slow breathing rate, difficulty swallowing, abnormal sweating, and cyanosis.
How is CHS diagnosed?
Diagnosis involves clinical evaluation, medical history, and genetic testing to confirm ZEB2 mutations.
What is the cost of the ZEB2 Gene NGS Test?
The test costs INR 20000 at DNA Labs India.
How is the test performed?
A blood sample is collected and analyzed using Next Generation Sequencing to detect mutations in the ZEB2 gene.
What is the turnaround time for results?
Results are available within 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is available in many cities across India.
Who should get this test?
Individuals with symptoms of CHS, family history of the disorder, or newborns with respiratory issues.
What does a positive result mean?
A positive result confirms a mutation in the ZEB2 gene, indicating ZEB2-related CHS.
What are the risks of the test?
The test involves minimal risks from blood draw, such as bruising.
How can I prepare for the test?
No special preparation is needed, but genetic counseling is recommended.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after the test for proper interpretation and support.
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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