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GLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic Test

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GLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic Test

Short Name: GLI3 GCPS NGS Test

Also known as: GCPS, GLI3-related disorder, Greig syndrome

GLI3 Gene Greig cephalopolysyndactyly 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 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

The purpose of this test is to detect mutations in the GLI3 gene to confirm a diagnosis of Greig cephalopolysyndactyly syndrome, assess carrier status, guide clinical management, and provide genetic counseling for affected families.

Test Code
2746
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 draw a pedigree chart of family members. Provide clinical history of the patient.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick. For FTA card, one drop of blood is applied.

Step 3

Report Delivery

Sample labeled and transported to the lab at ambient room temperature. No fasting required.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation. Provide detailed family history.
2
During the Test:Blood sample collection. NGS analysis performed in the lab.
3
After the Test:Report generation and delivery. Follow-up counseling recommended.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the GLI3 gene to confirm a diagnosis of Greig cephalopolysyndactyly syndrome, assess carrier status, guide clinical management, and provide genetic counseling for affected families.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately
  • Transport samples at room temperature

Doctor's Notes

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

"Genetic testing for GCPS is crucial for early diagnosis and management, especially in families with a history of limb or craniofacial abnormalities."

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 or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GLI3 gene. Interpretation should be done by a genetic specialist.
📊

Pathogenic variant detected

Confirms diagnosis of GCPS. Genetic counseling recommended.

📊

Likely pathogenic variant detected

Suggests high probability of GCPS. Further evaluation advised.

📊

Variant of uncertain significance (VUS)

Clinical correlation needed. May require additional testing.

📊

No pathogenic variant detected

GCPS unlikely based on this gene, but clinical symptoms may warrant further investigation.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatrician if symptoms of GCPS are present, for family planning if there is a family history, or to discuss test results and management options.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results may include variants of uncertain significance (VUS)
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestGLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic TestGLI3 Gene Sanger SequencingWhole Exome SequencingChromosomal MicroarrayPrenatal Genetic Testing
ComparisonGLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic Test

Frequently Asked Questions

What is Greig cephalopolysyndactyly syndrome (GCPS)?
GCPS is a rare genetic disorder affecting limb, head, and face development, caused by mutations in the GLI3 gene.
How is GCPS inherited?
It is inherited in an autosomal dominant pattern, meaning one mutated gene copy can cause the disorder.
What are the common symptoms of GCPS?
Symptoms include extra fingers or toes, webbed digits, large head, widely spaced eyes, and hearing issues.
How is GCPS diagnosed?
Diagnosis involves clinical evaluation, imaging tests, and genetic testing like NGS of the GLI3 gene.
What is the GLI3 Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the GLI3 gene to identify mutations causing GCPS.
What sample is required for this test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
A positive result confirms a pathogenic mutation in the GLI3 gene, indicating GCPS.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection across India.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before and after testing.
What is the cost of the test?
The test costs INR 20000, with special discounts available for online bookings.
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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