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SALL4 Gene Duane Retraction Syndrome NGS Genetic Test

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SALL4 Gene Duane Retraction Syndrome NGS Genetic Test

Short Name: SALL4 Gene DRS NGS Test

Also known as: Duane Syndrome Test, SALL4 Mutation Analysis, Duane Retraction Syndrome Genetic Test

SALL4 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.

NGS Genetic TestAll Ages🏠 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 diagnose Duane Retraction Syndrome by detecting pathogenic mutations in the SALL4 gene using next-generation sequencing technology, aiding in clinical management and genetic counseling.

Test Code
1482
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

Ensure informed consent is obtained. Provide clinical history and family pedigree if available. No specific preparation required.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

Blood sample drawn by a trained phlebotomist or FTA card application from a finger prick. Minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bruising. Store sample as per lab instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss implications, benefits, and limitations. Provide detailed clinical and family history.
2
During the Test:Sample collection and processing in the laboratory using NGS technology. The process is non-invasive except for blood draw.
3
After the Test:Wait for report delivery (3-4 weeks). Schedule genetic counseling to discuss results and next steps.

About This Test

Who Should Get This Test

To diagnose Duane Retraction Syndrome by detecting pathogenic mutations in the SALL4 gene using next-generation sequencing technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport at room temperature unless specified
  • Avoid hemolysis in blood samples

Doctor's Notes

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

"This NGS test is crucial for confirming Duane Retraction Syndrome and guiding genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card application

Sample Stability

Room temperature
Refrigerated (2-8°C)
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Incorrect container or labeling
  • Sample collected without proper consent

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SALL4 gene. A positive result confirms genetic diagnosis, while a negative result may require further clinical evaluation.
Positive result: Pathogenic variant detected; confirm diagnosis and discuss management with a specialist
Negative result: No pathogenic variants found; consider other genetic or non-genetic causes
Variant of uncertain significance (VUS): Further testing or family studies recommended
Use results for genetic counseling and family planning
⚠️ When to Consult a Doctor:

After receiving results, consult a geneticist, ophthalmologist, or neurologist for comprehensive management, especially if symptoms persist or for family members at risk.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions)
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Not a standalone diagnostic tool; clinical correlation is essential
  • ⚠Results may include variants of uncertain significance

Risks & Considerations

  • ●Psychological impact of genetic results, especially positive findings
  • ●Privacy and confidentiality concerns with genetic data
  • ●Minimal physical risks from blood draw (e.g., bruising, infection)
  • ●Potential for variants of uncertain significance causing anxiety

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Poor DNA quality due to improper handling
  • ●Technical errors in sequencing or data analysis

Compare With Similar Tests

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Frequently Asked Questions

What is the SALL4 Gene Duane Retraction Syndrome NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the SALL4 gene causing Duane Retraction Syndrome, a rare eye movement disorder.
How much does the test cost at DNA Labs India?
The test costs INR 20000, which includes sample collection, analysis, and reporting.
What is Duane Retraction Syndrome?
It is a genetic disorder affecting eye movements, characterized by the inability to move the eye outward, often with eye retraction and strabismus.
What are the common symptoms of Duane Retraction Syndrome?
Symptoms include limited outward eye movement, narrowing of the eye opening, eye turning inward or upward, head tilting, and reduced vision.
How is the test performed?
The test uses next-generation sequencing on a blood or DNA sample to analyze the SALL4 gene for mutations.
What samples are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
Is the test covered by insurance schemes like PMJAY?
Coverage varies; check with your insurance provider or scheme administration for eligibility.
What are the risks associated with the test?
Risks are minimal and include psychological impact from results and privacy concerns, with low physical risks from blood draw.
How accurate is the SALL4 Gene NGS Test?
The test is highly accurate for detecting pathogenic variants in the SALL4 gene, but results should be correlated with clinical findings.
Who should consider getting this test?
Individuals with symptoms of Duane Retraction Syndrome, family history, or unexplained eye movement abnormalities should consider testing.
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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