MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
Short Name: MECP2 CHS NGS Test
Also known as: Central hypoventilation syndrome (CHS), Congenital central hypoventilation syndrome (CCHS), Ondine's curse
MECP2 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 3-4 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 identify mutations in the MECP2 gene for accurate diagnosis of Central Hypoventilation Syndrome, enabling targeted treatment and genetic counseling.
- Test Code
- 5704
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Provide clinical history and undergo genetic counseling session.
Method: Venipuncture for blood, or saliva collection
Laboratory Analysis
Blood sample collected by trained phlebotomist using standard venipuncture techniques.
Report Delivery
Apply pressure to puncture site to prevent bleeding. Sample processed for DNA extraction.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the MECP2 gene for accurate diagnosis of Central Hypoventilation Syndrome, enabling targeted treatment and genetic counseling.
How to Prepare
- Clinical history of patient required
- Genetic counseling session to draw pedigree chart
- Sample can be blood, extracted DNA, or blood on FTA card
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for MECP2 mutations is crucial for diagnosing Central Hypoventilation Syndrome and guiding personalized treatment plans to improve patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Contaminated samples
Understanding Your Results
Positive
Pathogenic mutation detected in MECP2 gene, confirming diagnosis of CHS.
Negative
No pathogenic mutations detected; clinical correlation recommended if symptoms persist.
Variant of Uncertain Significance
Genetic variant identified but significance unclear; further testing or family studies may be needed.
If symptoms of Central Hypoventilation Syndrome are present, such as breathing difficulties during sleep, or if there is a family history of the disorder.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires clinical correlation
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●DNA degradation
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test | PHOX2B Gene Test | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test |
Frequently Asked Questions
What is MECP2 Gene Central Hypoventilation Syndrome?
What are the common symptoms of CHS?
How is CHS diagnosed?
What does the NGS Genetic Test involve?
What is the cost of the MECP2 Gene NGS Test?
Is home sample collection available?
How long does it take to get results?
What do the results mean?
Is genetic counseling required before testing?
Can this test be used for prenatal diagnosis?
Are there any risks associated with the test?
How accurate is the NGS test for detecting MECP2 mutations?
Related Tests
Reference 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.