Skip to main content
DNA Labs India

ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

Short Name: ASCL1 Gene CCHS NGS Test

Also known as: Ondine's Curse, Congenital Central Hypoventilation Syndrome

ASCL1 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of the ASCL1 gene NGS genetic test is to identify mutations in the ASCL1 gene associated with congenital central hypoventilation syndrome (CCHS). This test aids in confirming diagnosis, guiding treatment strategies, and informing family planning decisions through genetic counseling.

Test Code
5242
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)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or a drop of blood on an FTA card.

Step 3

Report Delivery

The sample is sent to the laboratory for NGS analysis, and results are delivered within 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Results are analyzed and reported; follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

The purpose of the ASCL1 gene NGS genetic test is to identify mutations in the ASCL1 gene associated with congenital central hypoventilation syndrome (CCHS). This test aids in confirming diagnosis, guiding treatment strategies, and informing family planning decisions through genetic counseling.

How to Prepare

  • Ensure proper identification and consent.
  • Follow standard phlebotomy procedures.
  • Use appropriate containers for sample stability.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for ASCL1 gene mutations is essential for early diagnosis and management of congenital central hypoventilation syndrome, improving patient outcomes through tailored interventions."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ASCL1 gene. A positive result confirms a genetic basis for CCHS, while a negative result may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of ASCL1-related CCHS; consider clinical management and genetic counseling.

📊

No pathogenic variant detected

ASCL1 gene mutation not identified; evaluate for other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as breathing difficulties during sleep, daytime sleepiness, or family history of CCHS are present. Genetic counseling is advised for result interpretation.

Limitations

  • ⚠This test only detects mutations in the ASCL1 gene; other genetic causes of CCHS may require additional testing.
  • ⚠Results should be interpreted in conjunction with clinical evaluation and family history.

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection.

Frequently Asked Questions

What is ASCL1 gene central hypoventilation syndrome?
It is a rare genetic disorder caused by mutations in the ASCL1 gene, leading to impaired breathing control, especially during sleep, known as congenital central hypoventilation syndrome (CCHS) or Ondine's curse.
What are the symptoms of ASCL1 gene CCHS?
Symptoms include difficulty breathing during sleep, daytime sleepiness, hypercapnia, hypoxemia, bradycardia, difficulty swallowing, and reduced sense of smell.
How is the ASCL1 gene NGS genetic test performed?
The test uses next-generation sequencing to analyze DNA from a blood sample or extracted DNA for mutations in the ASCL1 gene.
What is the cost of the ASCL1 gene NGS test in India?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is fasting required for this genetic test?
No, fasting is not required for the ASCL1 gene NGS genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
What should I do if the test is positive?
A positive result indicates a genetic mutation; consult a healthcare provider for management options and genetic counseling.
Can this test diagnose other types of central hypoventilation syndrome?
This test specifically targets ASCL1 gene mutations; other genes may require additional testing.
Is genetic counseling recommended before testing?
Yes, genetic counseling is advised to understand the test implications and interpret results.
What is the turnaround time for report delivery?
Reports are delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

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.

LIMS Integration

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.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.