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SF3B4 Gene Acrofacial dysostosis 1, Nager type NGS Genetic Test

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SF3B4 Gene Acrofacial dysostosis 1, Nager type NGS Genetic Test

Short Name: SF3B4 NGS Test

Also known as: Nager syndrome, Acrofacial dysostosis type 1, SF3B4-related disorder

SF3B4 Gene Acrofacial dysostosis 1, Nager type 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 identify mutations in the SF3B4 gene for diagnosis of Acrofacial dysostosis 1, Nager type, carrier testing, and genetic counseling.

Test Code
4811
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

Genetic counseling session recommended to discuss test implications and draw a pedigree chart of family history.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under appropriate conditions for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test, implications, and provide informed consent. Share detailed medical and family history.
2
During the Test:A blood sample will be drawn by a trained phlebotomist. The procedure is minimally invasive and takes a few minutes.
3
After the Test:Wait for 3 to 4 weeks for results. Follow up with your healthcare provider for result interpretation and next steps.

About This Test

Who Should Get This Test

To identify mutations in the SF3B4 gene for diagnosis of Acrofacial dysostosis 1, Nager type, carrier testing, and genetic counseling.

How to Prepare

  • Provide clinical history of the patient
  • Conduct a genetic counseling session to document family history
  • Ensure proper sample labeling and handling

Doctor's Notes

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

"Genetic testing for SF3B4 mutations is essential for confirming Nager syndrome diagnosis, guiding management, and providing carrier status information for 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 blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SF3B4 gene. A positive result confirms a diagnosis of Acrofacial dysostosis 1, Nager type, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of Acrofacial dysostosis 1, Nager type. Genetic counseling recommended for family planning.

📊

Negative for pathogenic variant

No SF3B4 mutations detected. Clinical correlation and additional testing may be needed if symptoms persist.

📊

Variant of uncertain significance (VUS)

Further analysis and family studies required to determine clinical significance.

⚠️ When to Consult a Doctor:

If symptoms of Acrofacial dysostosis are present, such as facial or limb abnormalities, or if there is a family history of the condition. Consult a geneticist or specialist for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is the SF3B4 Gene Acrofacial Dysostosis 1, Nager Type NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the SF3B4 gene, which causes Acrofacial dysostosis 1, Nager type, a rare genetic disorder affecting facial and limb bone development.
Who should consider this genetic test?
Individuals with symptoms like underdeveloped cheekbones, small jaw, cleft palate, or limb abnormalities, and those with a family history of Nager syndrome.
What is the cost of the test at DNA Labs India?
The test costs INR 20000, with free home sample collection available across India.
How is the sample collected for this test?
A blood sample is collected via venipuncture, or one drop of blood on an FTA card can be used. Home collection is available.
What does a positive test result mean?
A positive result confirms a mutation in the SF3B4 gene, indicating a diagnosis of Acrofacial dysostosis 1, Nager type. Genetic counseling is recommended.
What if the test result is negative?
A negative result means no pathogenic SF3B4 mutations were detected. Clinical evaluation and additional tests may be needed if symptoms persist.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be used for carrier testing?
Yes, it can identify carriers of SF3B4 mutations, which is useful for family planning and genetic counseling.
What are the risks associated with this test?
Risks are minimal, such as minor bruising from blood draw. Emotional impact of results should be discussed with a counselor.
Is the test covered by insurance?
Coverage varies by insurance provider. It is not typically covered under government schemes like PMJAY or CGHS; check with your insurer.
How do I prepare for the test?
Provide clinical history, undergo genetic counseling, and ensure proper documentation. No special preparation is needed.
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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✓ 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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