GFRA1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
Also known as: CHS Genetic Test, GFRA1 Gene Sequencing Test
GFRA1 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To identify mutations in the GFRA1 gene that cause Central Hypoventilation Syndrome, aiding in diagnosis and management.
- Test Code
- 5700
- 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
Clinical history of patient and genetic counseling session to draw a pedigree chart.
Method: Blood draw or saliva collection
Laboratory Analysis
Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the GFRA1 gene that cause Central Hypoventilation Syndrome, aiding in diagnosis and management.
How to Prepare
- Provide blood sample or saliva
- Follow instructions for FTA card if used
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Central Hypoventilation Syndrome is essential for early intervention and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of CHS due to GFRA1 mutation.
Negative for mutation
No GFRA1 mutations detected; consider other causes.
Variant of uncertain significance
Further testing and clinical correlation needed.
If symptoms of Central Hypoventilation Syndrome are present, such as breathing difficulties during sleep.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of genetic results
Frequently Asked Questions
What is Central Hypoventilation Syndrome?
What causes CHS?
What are the symptoms of CHS?
How is CHS diagnosed?
What is the GFRA1 gene?
What does the NGS genetic test involve?
How much does the test cost?
Is home sample collection available?
How long does it take to get results?
What do the results mean?
Is genetic counseling necessary?
Are there any risks to the test?
Related Tests
KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test
₹20,000CAT Gene Acatalasemia NGS Genetic Test
₹20,000BLM Gene Bloom syndrome NGS Genetic Test
₹20,000FANCC Gene Fanconi anemia type C NGS Genetic Test
₹20,000TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test
₹20,000PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test
₹20,000Reference 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.