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GLI2 Gene Holoprosencephaly-type 9 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GLI2 Gene Holoprosencephaly-type 9 NGS Genetic Test

Short Name: GLI2 HPE9 NGS Test

Also known as: GLI2 Gene Test, Holoprosencephaly Type 9 Genetic Test, HPE9 NGS Test

GLI2 Gene Holoprosencephaly-type 9 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the GLI2 gene for the diagnosis of Holoprosencephaly-type 9, aiding in clinical management and genetic counseling.

Test Code
5776
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 Technology
Step 1

Sample Collection

Provide detailed clinical history and family pedigree chart as part of pre-test genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect the blood sample using sterile techniques.

Step 3

Report Delivery

The sample will be processed and analyzed in the laboratory using NGS technology.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.
2
During the Test:Sample analysis performed using Next Generation Sequencing (NGS) technology for comprehensive gene coverage.
3
After the Test:Report generation within 3-4 weeks, followed by optional genetic counseling to discuss results.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the GLI2 gene for the diagnosis of Holoprosencephaly-type 9, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately

Doctor's Notes

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

"Early genetic testing for GLI2 mutations can aid in timely diagnosis and management of Holoprosencephaly-type 9, facilitating appropriate genetic counseling and care."

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
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GLI2 gene, which are associated with Holoprosencephaly-type 9.
📊

Positive

Pathogenic variant detected, consistent with diagnosis of Holoprosencephaly-type 9. Genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Clinical correlation advised if symptoms persist.

📊

Variant of Uncertain Significance

A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of Holoprosencephaly are present, such as abnormal facial features, seizures, or developmental delays, or if there is a family history of the condition.

Limitations

  • ⚠Test may not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of test results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Improper sample storage

Compare With Similar Tests

TestGLI2 Gene Holoprosencephaly-type 9 NGS Genetic TestSHH Gene TestZIC2 Gene Test
ComparisonGLI2 Gene Holoprosencephaly-type 9 NGS Genetic TestTests for Sonic Hedgehog gene mutations, another cause of holoprosencephaly.Detects mutations in ZIC2 gene associated with holoprosencephaly.

Frequently Asked Questions

What is the GLI2 Gene Holoprosencephaly-type 9 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the GLI2 gene, which cause Holoprosencephaly-type 9, a disorder affecting brain development.
What are the symptoms of Holoprosencephaly-type 9?
Symptoms include abnormal facial features (e.g., cleft lip/palate), seizures, intellectual disability, delayed development, and small head size (microcephaly).
How is the test performed?
The test analyzes a blood or DNA sample using NGS technology to identify mutations in the GLI2 gene.
What is the cost of the test?
The cost is INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
It may be covered by some health insurance plans. Check with your insurance provider for specific coverage details.
What sample type is required?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Who should get this test?
Individuals with symptoms of Holoprosencephaly-type 9, a family history of GLI2 mutations, or those recommended by a healthcare provider.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the GLI2 gene, confirming a diagnosis of Holoprosencephaly-type 9. Genetic counseling is advised.
What are the limitations of the test?
The test may not detect all genetic variants, and results may include variants of uncertain significance requiring further evaluation.
How can I prepare for the test?
Provide clinical history and undergo genetic counseling before testing. No fasting is required, and home collection can be arranged.
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.

LIMS Integration

Your Data Privacy

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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