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PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test

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PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test

Short Name: PHOX2B Gene Test

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

PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease 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.

Genetic TestAll ages, typically diagnosed in infancy🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of this test is to identify mutations in the PHOX2B gene to confirm a diagnosis of central hypoventilation syndrome with or without Hirschsprung disease. It helps in understanding the genetic basis of the condition, informing treatment plans, and facilitating genetic counseling for affected families.

Test Code
5241
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with the condition.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Sample processed for NGS analysis; results available in 3-4 weeks.

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:Non-invasive blood sample collection; no special procedures required.
3
After the Test:Monitor for any discomfort; results will be communicated via chosen delivery method.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the PHOX2B gene to confirm a diagnosis of central hypoventilation syndrome with or without Hirschsprung disease. It helps in understanding the genetic basis of the condition, informing treatment plans, and facilitating genetic counseling for affected families.

How to Prepare

  • Ensure proper sample labeling
  • Follow aseptic techniques
  • Store samples as per guidelines

Doctor's Notes

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

"Early genetic testing for PHOX2B mutations is crucial for timely intervention and management of central hypoventilation syndrome, especially in infants with unexplained breathing difficulties."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of PHOX2B gene mutations. A positive result confirms genetic predisposition to central hypoventilation syndrome, while a negative result may require further testing if clinical suspicion remains.
Positive for PHOX2B mutation: Confirms diagnosis; recommend clinical management and genetic counseling.
Negative for PHOX2B mutation: Consider other genetic or non-genetic causes; repeat testing if needed.
Variant of uncertain significance: May require additional family studies or functional analysis.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as breathing difficulties during sleep, chronic constipation, or autonomic dysfunction are present, especially in infants or children with a family history of CCHS.

Limitations

  • ⚠Test may not detect all rare variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is the PHOX2B Gene Test?
It is an NGS genetic test to detect mutations in the PHOX2B gene, which causes central hypoventilation syndrome with or without Hirschsprung disease.
How is the test performed?
A blood sample or DNA extract is analyzed using next-generation sequencing technology to identify genetic mutations.
What is the cost of the test at DNA Labs India?
The test costs 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 nationwide.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of central hypoventilation syndrome?
Symptoms include difficulty breathing during sleep, sleep apnea, low blood pressure, temperature dysregulation, swallowing difficulties, and constipation.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally not painful.
Can this test detect Hirschsprung disease?
Yes, PHOX2B mutations are associated with both central hypoventilation syndrome and Hirschsprung disease, so the test can indicate risk for both conditions.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to discuss implications, draw a family pedigree, and understand results.
What if the test result is positive?
A positive result confirms genetic predisposition; consult a healthcare provider for management options and family planning advice.
Is the test covered by insurance?
Coverage varies by insurance plan; check with your provider. DNA Labs India offers affordable pricing regardless.
How accurate is the PHOX2B Gene Test?
The test uses advanced NGS technology with high accuracy, but results should be correlated with clinical findings by a specialist.
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

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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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