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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 CCHS NGS Test

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

PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this test is to identify mutations in the PHOX2B gene that cause Central Hypoventilation Syndrome with or without Hirschsprung Disease, enabling accurate diagnosis, family screening, and informed medical management.

Test Code
5698
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

Genetic counseling session recommended. Provide clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample sent to laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session. Provide detailed medical and family history.
2
During the Test:Sample collection takes about 10-15 minutes. No special procedures during testing.
3
After the Test:Resume normal activities. Await report delivery in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the PHOX2B gene that cause Central Hypoventilation Syndrome with or without Hirschsprung Disease, enabling accurate diagnosis, family screening, and informed medical management.

How to Prepare

  • No fasting required
  • Avoid strenuous activity before collection
  • Bring identification and prescription

Doctor's Notes

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

"This test is crucial for early diagnosis of CCHS, enabling timely intervention for breathing difficulties and associated conditions like Hirschsprung disease."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood or as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PHOX2B gene. A positive result confirms diagnosis, while a negative result may require further testing.
Positive: Pathogenic variant detected, consistent with CCHS
Negative: No pathogenic variants detected, but clinical symptoms may warrant additional tests
Variant of uncertain significance: Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms persist or if there is a family history of CCHS.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Does not rule out other genetic conditions
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising or infection at puncture site

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is PHOX2B Gene Central Hypoventilation Syndrome?
It is a rare genetic disorder caused by mutations in the PHOX2B gene, leading to impaired breathing control, often during sleep, and may be associated with Hirschsprung disease.
What are the common symptoms of CCHS?
Symptoms include difficulty breathing, weak cough, lack of response to high carbon dioxide levels, cyanosis, constipation, abdominal distension, and failure to thrive in infants.
How is CCHS diagnosed?
Diagnosis is based on clinical symptoms, but genetic testing using NGS can confirm PHOX2B mutations for accurate diagnosis.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a advanced method that analyzes multiple genes simultaneously to identify mutations efficiently.
What is the cost of the PHOX2B NGS test at DNA Labs India?
The test costs INR 20,000, with home sample collection available across India.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Reports are typically delivered within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
Fasting is not typically required, but follow any specific instructions from your physician.
What if the test result is positive?
A positive result confirms PHOX2B mutations, and you should consult a geneticist or specialist for management and family planning.
Can this test detect Hirschsprung disease?
The test identifies PHOX2B mutations associated with CCHS, which may include Hirschsprung disease, but additional tests may be needed for full evaluation.
Is genetic counseling provided with the test?
Yes, genetic counseling is recommended before and after testing to discuss implications, results, and family history.
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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