PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic Test
Short Name: PHOX2B NGS Genetic Test
Also known as: PHOX2B Gene Mutation Analysis, CCHS Genetic Test, Hirschsprung Disease PHOX2B NGS Panel, PHOX2B Sequencing
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 Reports are typically delivered within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To confirm a clinical diagnosis of congenital central hypoventilation syndrome (CCHS) with or without Hirschsprung disease by identifying pathogenic variants in the PHOX2B gene. The test also aids in carrier detection, family counselling, and reproductive planning.
- Test Code
- 3946
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended before testing to draw a pedigree chart and discuss the implications of results.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
For blood collection, a trained phlebotomist will draw a small amount of venous blood into an EDTA tube. For FTA card, a single drop of blood is placed on the card and allowed to air dry.
Report Delivery
No special precautions are required after sample collection. Patients may resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To confirm a clinical diagnosis of congenital central hypoventilation syndrome (CCHS) with or without Hirschsprung disease by identifying pathogenic variants in the PHOX2B gene. The test also aids in carrier detection, family counselling, and reproductive planning.
How to Prepare
- Bring a valid government ID for verification.
- Provide the clinical history and any previous genetic test reports if available.
- For home collection, ensure the patient is available at the scheduled time.
- The FTA card should be labelled with the patient's name and date of collection.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic confirmation of PHOX2B variants is critical for initiating ventilator support and managing Hirschsprung disease. This NGS test provides a definitive molecular diagnosis, enabling timely intervention and informed family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Samples in non-EDTA tubes
- FTA cards with insufficient blood or incomplete drying
- Samples without proper labelling or requisition form
Understanding Your Results
Negative (no pathogenic variant detected)
No pathogenic PHOX2B variant was found. This reduces the likelihood of PHOX2B-related CCHS, but does not completely exclude the diagnosis if clinical suspicion remains high.
Positive (pathogenic variant detected)
A pathogenic/likely pathogenic variant in PHOX2B was identified. This confirms the genetic diagnosis and supports the clinical diagnosis of CCHS with or without Hirschsprung disease.
Variant of uncertain significance (VUS)
A genetic variant of unknown clinical significance was identified. Further family studies and functional analysis may be needed to determine its role.
If you or your child experience symptoms such as apnea, difficulty breathing during sleep, cyanosis, constipation, or poor growth, consult a neurologist or paediatrician immediately. Early referral for genetic testing can be life-saving.
Limitations
- ⚠This test analyzes only the PHOX2B gene and does not rule out other genetic causes of CCHS-like symptoms.
- ⚠Deep intronic variants, large structural rearrangements, or regulatory region mutations may not be detected by this NGS panel.
- ⚠A negative result does not completely exclude the diagnosis of CCHS; clinical correlation and further testing may be required.
- ⚠The raw data files (FASTQ, VCF) are provided for transparency and optional secondary analysis.
Risks & Considerations
- ●Slight pain, bruising, or bleeding at the venipuncture site
- ●Very low risk of infection
- ●FTA card blood spot has no needle-related risks
Interfering Factors
- ●Contamination of sample with maternal DNA
- ●Poor quality or quantity of extracted DNA
- ●Incorrect sample storage or transport conditions
- ●Very rare large deletions may not be detected by standard NGS
Compare With Similar Tests
| Test | PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic Test | Whole Exome Sequencing | Hirschsprung Disease NGS Panel |
|---|---|---|---|
| Comparison | PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic Test |
Frequently Asked Questions
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