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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 NGS Test

Also known as: Duane Syndrome Type 2, SALL4-Related Disorder

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.

Next Generation SequencingPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose SALL4 Gene Duane Retraction Syndrome by identifying pathogenic variants in the SALL4 gene using Next Generation Sequencing.

Test Code
2728
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.

Method: Blood draw or FTA Card

Step 2

Laboratory Analysis

Blood draw or FTA card collection.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Wait for report delivery in 3 to 4 weeks.

About This Test

Who Should Get This Test

To diagnose SALL4 Gene Duane Retraction Syndrome by identifying pathogenic variants in the SALL4 gene using Next Generation Sequencing.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details

Doctor's Notes

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

"Genetic testing for SALL4 mutations is crucial for accurate diagnosis and family planning. Early intervention can improve outcomes for patients with Duane Retraction Syndrome."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for 24 hours
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SALL4 gene associated with Duane Retraction Syndrome.
Positive: Pathogenic variant detected, confirming diagnosis
Negative: No pathogenic variant detected, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms of Duane Retraction Syndrome are present, such as limited eye movement or misalignment, or if there is a family history of the disorder.

Limitations

  • Cannot detect all possible mutations
  • May identify variants of uncertain significance

Risks & Considerations

  • Minor bruising at the puncture site
  • Rare risk of infection

Interfering Factors

  • Sample contamination
  • Degraded DNA

Frequently Asked Questions

What is SALL4 Gene Duane Retraction Syndrome?
It is a rare genetic disorder caused by mutations in the SALL4 gene, leading to abnormal eye movements and misalignment.
What are the symptoms of this syndrome?
Symptoms include limited horizontal eye movement, difficulty moving eyes side to side, eye misalignment, vision problems, and sometimes physical abnormalities like webbing of fingers or toes.
How is the syndrome diagnosed?
Diagnosis is through genetic testing, specifically Next Generation Sequencing (NGS) of the SALL4 gene.
What is the cost of the NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the SALL4 gene, confirming the diagnosis of Duane Retraction Syndrome.
What does a negative test result mean?
A negative result means no pathogenic variant was detected, but clinical correlation is advised as symptoms may be due to other causes.
Are there any risks associated with the test?
Risks are minimal and include minor bruising or rare infection at the blood draw site.
Can this test be done for children?
Yes, the test is suitable for pediatric patients, as indicated in the test type.
Is genetic counseling provided?
Yes, genetic counseling is recommended and included as part of the pre-test information.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them directly for assistance.
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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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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