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SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic Test

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SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic Test

Short Name: SETBP1 Gene Test

Also known as: Schinzel-Giedion syndrome, SGS

SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

PediatricsPediatric🏠 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

The purpose of this test is to confirm a diagnosis of Schinzel-Giedion midface retraction syndrome by identifying pathogenic mutations in the SETBP1 gene using advanced NGS technology, aiding in clinical decision-making and genetic counseling.

Test Code
2802
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Schinzel-Giedion syndrome.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Sample collection via blood draw or saliva swab, performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed and analyzed in the lab; results are delivered online or via email/WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection is minimally invasive, involving a blood draw or saliva swab.
3
After the Test:Results are available in 3 to 4 weeks; follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a diagnosis of Schinzel-Giedion midface retraction syndrome by identifying pathogenic mutations in the SETBP1 gene using advanced NGS technology, aiding in clinical decision-making and genetic counseling.

How to Prepare

  • Provide clinical history and family pedigree
  • Ensure proper sample labeling
  • Follow aseptic techniques during collection

Doctor's Notes

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

"Genetic testing for SETBP1 mutations is crucial for early diagnosis and management of Schinzel-Giedion syndrome, enabling timely intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SETBP1 gene associated with Schinzel-Giedion syndrome.
Positive result: Pathogenic mutation detected, confirming diagnosis.
Negative result: No pathogenic variants found; clinical correlation needed.
Variant of uncertain significance: Further testing or family studies may be required.
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms suggestive of Schinzel-Giedion syndrome are present, or after receiving test results for management guidance.

Limitations

  • ⚠May not detect all types of SETBP1 mutations
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is Schinzel-Giedion midface retraction syndrome?
It is a rare genetic disorder caused by SETBP1 gene mutations, leading to physical and developmental abnormalities.
How is the syndrome diagnosed?
Diagnosis involves clinical evaluation and genetic testing to confirm SETBP1 gene mutations.
What does the NGS Genetic Test involve?
The test uses next-generation sequencing to analyze the SETBP1 gene from a blood or saliva sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What are the symptoms of the syndrome?
Symptoms include midface retrusion, developmental delay, seizures, and heart defects, among others.
Can the test be done on children?
Yes, the test is suitable for pediatric patients, as the syndrome is often diagnosed in infancy or early childhood.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
What if the test result is negative?
A negative result means no pathogenic variants were detected, but clinical correlation is advised if symptoms persist.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer for details.
How accurate is the NGS Genetic Test?
The test is highly accurate for detecting SETBP1 gene mutations, but results should be interpreted by a genetic specialist.
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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✓ 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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