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RET Gene Central hypoventilation syndrome, congenital NGS Genetic Test

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RET Gene Central hypoventilation syndrome, congenital NGS Genetic Test

Short Name: RET Gene CHS NGS Test

Also known as: Ondine's curse

RET 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 TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the RET Gene Central Hypoventilation Syndrome NGS Genetic Test is to detect mutations in the RET gene associated with CHS, enabling accurate diagnosis, early intervention, and informed management for affected individuals.

Test Code
5703
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

No specific preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or collected on FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to draw a pedigree chart.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Sample sent for NGS analysis; results available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the RET Gene Central Hypoventilation Syndrome NGS Genetic Test is to detect mutations in the RET gene associated with CHS, enabling accurate diagnosis, early intervention, and informed management for affected individuals.

How to Prepare

  • Ensure sample is collected in a sterile environment
  • Label sample correctly with patient details
  • Transport sample at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for RET gene mutations is crucial for early diagnosis and management of Central Hypoventilation Syndrome, especially in pediatric cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the RET gene. Positive results suggest a genetic predisposition to CHS, while negative results may require further clinical evaluation.
Positive result: Mutation detected, indicating increased risk for CHS. Consult a genetic specialist.
Negative result: No mutation detected, but clinical symptoms may warrant additional testing.
Variant of uncertain significance: Further research or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a doctor if experiencing symptoms of CHS, such as breathing difficulties during sleep, or if genetic test results are positive or uncertain.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other causes of CHS

Risks & Considerations

  • ●Minor discomfort or bruising at blood draw site
  • ●Minimal risk of infection

Interfering Factors

  • ●Hemolyzed samples may affect results
  • ●Contaminated DNA samples

Frequently Asked Questions

What is Central Hypoventilation Syndrome (CHS)?
CHS is a rare condition where breathing is inadequate during sleep, also known as Ondine's curse, often linked to genetic mutations like in the RET gene.
What is the RET gene?
The RET gene is involved in nervous system development; mutations can lead to conditions like Central Hypoventilation Syndrome.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the RET gene from a blood sample, detecting mutations associated with CHS.
What is the cost of the RET Gene CHS NGS Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is fasting required for this test?
No, fasting is not required for the RET Gene CHS NGS Genetic Test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample type is needed?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What are the symptoms of CHS?
Symptoms include difficulty breathing during sleep, daytime fatigue, difficulty swallowing, and pale or bluish skin.
How is CHS diagnosed?
Diagnosis involves sleep studies, blood gas tests, pulmonary function tests, and genetic testing for mutations like in the RET gene.
Who should consider this genetic test?
Individuals with symptoms of CHS or a family history of the condition should consider testing, especially children.
What does a positive test result mean?
A positive result indicates a mutation in the RET gene, increasing the risk for CHS; consultation with a genetic specialist is recommended.
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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