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PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic Test

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PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic Test

Short Name: PHOX2A CHS NGS Test

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

PHOX2A 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

To diagnose Central Hypoventilation Syndrome (CHS) by detecting mutations in the PHOX2A gene using Next-Generation Sequencing (NGS), aiding in clinical management and genetic counseling.

Test Code
5705
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 CHS.

Step 2

Laboratory Analysis

Standard blood draw from a vein or application of one drop of blood on an FTA card.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis in the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before sample collection.
2
During the Test:Sample collection via blood draw or FTA card, followed by laboratory processing.
3
After the Test:Results are reviewed by a geneticist, and genetic counseling is provided for interpretation.

About This Test

Who Should Get This Test

To diagnose Central Hypoventilation Syndrome (CHS) by detecting mutations in the PHOX2A gene using Next-Generation Sequencing (NGS), aiding in clinical management and genetic counseling.

How to Prepare

  • Blood sample: Collect in an EDTA tube.
  • FTA Card: Apply one drop of blood on the designated area.
  • Extracted DNA: Provide in an appropriate buffer or tube.

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing CHS and planning treatment. Genetic counseling helps families understand inheritance patterns and risks."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PHOX2A gene associated with Central Hypoventilation Syndrome.
Positive: Pathogenic variant detected, confirming diagnosis of CHS.
Negative: No pathogenic variants identified, but clinical correlation is advised.
Variant of Uncertain Significance (VUS): Further testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

If symptoms such as breathing difficulties, cyanosis, or bradycardia persist, or for genetic counseling and family planning after test results.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection at the collection site

Frequently Asked Questions

What is Central Hypoventilation Syndrome (CHS)?
CHS is a rare genetic disorder where individuals lose the automatic control of breathing, especially during sleep, often due to PHOX2A gene mutations.
What causes CHS?
CHS is primarily caused by mutations in the PHOX2A gene, which affects the development of the autonomic nervous system responsible for automatic breathing.
What are the symptoms of CHS?
Symptoms include difficulty breathing during sleep, cyanosis (bluish skin), bradycardia (slow heart rate), and feeding difficulties in infants.
How is CHS diagnosed?
Diagnosis involves genetic testing, such as NGS, to detect mutations in the PHOX2A gene, along with clinical evaluation of symptoms.
What is the PHOX2A gene?
The PHOX2A gene is involved in the development of the autonomic nervous system; mutations can lead to conditions like Central Hypoventilation Syndrome.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is a advanced technology that sequences entire genes quickly and accurately, used here to analyze the PHOX2A gene for mutations.
How much does the PHOX2A Gene CHS NGS Test cost?
The test costs INR 20,000 at DNA Labs India, with potential discounts for online bookings and home sample collection.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used for the test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What should I do if I suspect CHS in my child?
Seek immediate medical attention for evaluation and consider genetic testing for diagnosis. Genetic counseling is also recommended.
Can genetic testing help with family planning?
Yes, genetic testing provides information on inheritance patterns, helping families understand risks and make informed decisions about future pregnancies.
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

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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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