GDNF Gene Central hypoventilation syndrome, congenital NGS Genetic Test
Short Name: GDNF Gene CHS NGS Test
Also known as: Ondine's curse, Congenital Central Hypoventilation Syndrome
GDNF 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the GDNF gene to confirm a diagnosis of Central Hypoventilation Syndrome (CHS) in pediatric patients, aiding in clinical management and genetic counseling.
- Test Code
- 5701
- 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
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with CHS are required.
Laboratory Analysis
Blood sample collection via venipuncture or use of FTA card for one drop of blood.
Report Delivery
The sample is sent to the laboratory for NGS analysis, and results are delivered in 3 to 4 weeks.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the GDNF gene to confirm a diagnosis of Central Hypoventilation Syndrome (CHS) in pediatric patients, aiding in clinical management and genetic counseling.
How to Prepare
- Provide detailed clinical history of the patient.
- Undergo genetic counseling to assess family history and draw a pedigree chart.
- Ensure sample is collected in appropriate container (blood tube or FTA card).
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of GDNF-related Central Hypoventilation Syndrome. Genetic counseling and clinical management recommended.
Negative for pathogenic mutation
No mutations detected in the GDNF gene. Clinical correlation and further testing may be needed if symptoms persist.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Follow-up testing and family studies may be required.
Consult a doctor if your child exhibits symptoms of CHS, such as respiratory failure during sleep, or if there is a family history of the disorder. Early consultation is essential for diagnosis and treatment planning.
Frequently Asked Questions
What is GDNF Gene Central Hypoventilation Syndrome?
What are the common symptoms of CHS?
How is CHS diagnosed?
What is the cost of the GDNF Gene NGS Test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What does a positive test result mean?
Is genetic counseling required before the test?
Can Central Hypoventilation Syndrome be treated?
Is the test covered by insurance?
What is the accuracy of the NGS genetic test?
How can I book the GDNF Gene NGS Test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Your Data Privacy
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.