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DNA Labs India

ASCL1 Gene Central Hypoventilation Syndrome, Congenital NGS Genetic Test

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ASCL1 Gene Central Hypoventilation Syndrome, Congenital NGS Genetic Test

Short Name: ASCL1 CHS NGS Test

Also known as: Ondine's Curse

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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect mutations in the ASCL1 gene for the diagnosis of congenital central hypoventilation syndrome (CHS), aiding in treatment planning and genetic counseling.

Test Code
1534
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

Obtain clinical history and conduct genetic counseling to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using aseptic technique.

Step 3

Report Delivery

Sample is processed for NGS analysis at the laboratory.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history evaluation by a healthcare provider.
2
During the Test:Blood sample collection and submission for next-generation sequencing analysis.
3
After the Test:Laboratory analysis and report generation, followed by consultation with a specialist.

About This Test

Who Should Get This Test

To detect mutations in the ASCL1 gene for the diagnosis of congenital central hypoventilation syndrome (CHS), aiding in treatment planning and genetic counseling.

How to Prepare

  • Use aseptic technique for blood draw
  • Label samples correctly with patient details
  • Transport at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for CHS is crucial for management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml of blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect or missing labeling
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ASCL1 gene, relevant for diagnosing CHS.
📊

Pathogenic variant detected

Confirmatory for CHS; recommend clinical assessment, family testing, and management planning.

📊

No pathogenic variant detected

CHS is less likely, but clinical correlation is needed; consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

If symptoms of CHS are present, such as breathing difficulties during sleep, or if there is a family history of the disorder, consult a neurologist or geneticist promptly.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Interpretation requires clinical correlation
  • ⚠Does not rule out other genetic causes

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Very low risk of infection
  • ●Emotional stress from genetic results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Insufficient DNA yield

Frequently Asked Questions

What is Central Hypoventilation Syndrome (CHS)?
CHS is a rare genetic disorder where the autonomic nervous system fails to control breathing during sleep, also known as Ondine's curse.
What causes CHS?
CHS is caused by mutations in the ASCL1 gene, which disrupts the development and function of the autonomic nervous system.
What are the symptoms of CHS?
Symptoms include difficulty breathing during sleep, apnea episodes, excessive daytime sleepiness, difficulty swallowing and speaking, high blood pressure, and heart rhythm abnormalities.
How is CHS diagnosed?
Diagnosis involves clinical evaluation, sleep studies, and genetic testing such as NGS to detect mutations in the ASCL1 gene.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is an advanced technology that sequences multiple genes simultaneously to identify genetic mutations efficiently.
What is the cost of the ASCL1 Gene NGS Test at DNA Labs India?
The test costs INR 20,000, with possible discounts for online bookings.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Can this test be done for children?
Yes, the test is suitable for all ages, including pediatric patients.
What should I do before the test?
Provide clinical history and undergo genetic counseling to discuss the test and draw a family pedigree chart.
What are the treatment options for CHS?
Management may include ventilatory support, monitoring, and supportive care; consult a doctor for personalized treatment plans.
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.

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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.

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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.

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