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CHN1 Gene Duane Retraction Syndrome NGS Genetic Test

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CHN1 Gene Duane Retraction Syndrome NGS Genetic Test

Short Name: CHN1 Gene DRS Test

Also known as: DRS Genetic Test, CHN1 Sequencing Test, Duane Syndrome Gene Test

CHN1 Gene Duane Retraction Syndrome 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.

Next-Generation Sequencing🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose Duane Retraction Syndrome by identifying mutations in the CHN1 gene, confirm genetic etiology, determine inheritance patterns, and support clinical management and genetic counseling.

Test Code
1483
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, but clinical history and genetic counseling session are recommended to draw a pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or a finger prick for one drop on FTA card; procedure is quick with minimal discomfort.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bruising; resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand test implications and draw family pedigree chart.
2
During the Test:Sample collection involves a simple blood draw or finger prick; no special precautions needed.
3
After the Test:Monitor collection site for any discomfort; results will be available online or via email in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Duane Retraction Syndrome by identifying mutations in the CHN1 gene, confirm genetic etiology, determine inheritance patterns, and support clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes or FTA cards
  • Label samples accurately with patient details
  • Transport samples at ambient room temperature to the laboratory

Doctor's Notes

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

"Genetic testing for the CHN1 gene is essential for confirming Duane Retraction Syndrome diagnosis and guiding family planning, as it can reveal autosomal dominant inheritance patterns."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or finger prick

Sample Stability

Sample Rejection Criteria:
  • Sample hemolyzed or clotted
  • Incorrect sample type or container
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results from the CHN1 Gene Duane Retraction Syndrome NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider. Positive results indicate a genetic mutation in the CHN1 gene, supporting diagnosis and inheritance assessment. Negative results do not completely rule out DRS, as other genes may be involved.
Positive: Pathogenic variant detected – confirms genetic diagnosis and informs counseling.
Negative: No pathogenic variants – consider other genetic or clinical factors.
Variant of Uncertain Significance (VUS) – may require further testing or family studies.
Carrier status – relevant for autosomal dominant inheritance in family planning.
⚠️ When to Consult a Doctor:

Consult a geneticist or ophthalmologist if symptoms of Duane Retraction Syndrome are present, after receiving test results, or for family planning guidance based on genetic findings.

Limitations

  • ⚠May not detect all types of genetic mutations, such as large structural variants
  • ⚠Results may include variants of uncertain significance (VUS)
  • ⚠Does not rule out other genetic causes of Duane Retraction Syndrome
  • ⚠Genetic testing cannot predict disease severity or progression

Risks & Considerations

  • ●Minor bruising or discomfort at blood collection site
  • ●Psychological impact of genetic results
  • ●False positives or negatives due to technical limitations

Interfering Factors

  • ●Sample hemolysis or contamination
  • ●Insufficient sample volume or quality
  • ●DNA degradation due to improper storage

Frequently Asked Questions

What is Duane Retraction Syndrome?
Duane Retraction Syndrome is a congenital eye movement disorder characterized by limited horizontal eye movement and retraction of the globe on attempted adduction.
What does the CHN1 gene do?
The CHN1 gene encodes a protein involved in cranial nerve development, and mutations can lead to Duane Retraction Syndrome type 2.
How is the CHN1 Gene Duane Retraction Syndrome NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the CHN1 gene from a blood or saliva sample, detecting genetic mutations.
What is the cost of the test?
The cost is INR 20000, which includes home sample collection across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is the test painful?
The test involves a simple blood draw or finger prick, which may cause minimal discomfort but is generally not painful.
Can children undergo this genetic test?
Yes, the test is suitable for all ages, including children, with parental consent for minors.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before testing to discuss implications and family history.
What if the test result is positive?
A positive result indicates a CHN1 gene mutation, confirming diagnosis and aiding in management and family planning.
Are there any risks associated with the test?
Risks include minor bruising at the collection site and psychological impact of results; consult a healthcare provider for guidance.
Is the test covered by insurance?
Coverage depends on insurance plans; it is not automatically covered, so check with your provider.
How do I book the test?
Book online through DNA Labs India's website or contact their helpline for home collection scheduling.
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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