BDNF Gene Central hypoventilation syndrome, congenital NGS Genetic Test
Short Name: BDNF Gene CHS NGS Test
Also known as: Ondine's curse
BDNF 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose congenital central hypoventilation syndrome by identifying pathogenic mutations in the BDNF gene using NGS technology, enabling early intervention and family planning.
- Test Code
- 5697
- 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)
Sample Collection
No specific preparation required. Provide clinical history and undergo genetic counseling.
Method: Venipuncture or blood drop
Laboratory Analysis
Blood sample collected via venipuncture or blood drop on FTA card by trained phlebotomist.
Report Delivery
Apply pressure to puncture site to prevent bruising. Store sample appropriately for transport.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose congenital central hypoventilation syndrome by identifying pathogenic mutations in the BDNF gene using NGS technology, enabling early intervention and family planning.
How to Prepare
- Ensure proper identification of patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of CHS is critical for managing respiratory complications and improving outcomes in affected children."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or container
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of CHS due to BDNF mutation. Genetic counseling and management recommended.
No pathogenic variant detected
CHS unlikely due to BDNF mutations. Consider other genetic or clinical causes.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor if symptoms of CHS are present, such as chronic breathing difficulties, or if family history suggests genetic risk. After testing, discuss results with a genetic counselor or specialist.
Limitations
- ⚠May not detect all genetic variants or mutations outside the BDNF gene
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | BDNF Gene Central hypoventilation syndrome, congenital NGS Genetic Test | PHOX2B Gene Test | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | BDNF Gene Central hypoventilation syndrome, congenital NGS Genetic Test | Targets a different gene associated with CHS; may be used alongside BDNF testing. | Broader genetic analysis that may identify mutations in multiple genes, including BDNF. |
Frequently Asked Questions
What is BDNF Gene Central Hypoventilation Syndrome?
What are the symptoms of CHS?
How is CHS diagnosed?
What is NGS genetic testing?
What is the cost of the BDNF Gene CHS NGS Test?
Is home sample collection available?
How long does it take to get results?
What should I do before the test?
Are there any risks associated with the test?
How accurate is the NGS test for CHS?
Can this test be used for prenatal diagnosis?
What if the test result is positive?
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