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GLI3 Gene Pallister-Hall syndrome NGS Genetic Test

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GLI3 Gene Pallister-Hall syndrome NGS Genetic Test

Short Name: GLI3 NGS Test

Also known as: Pallister-Hall Syndrome Genetic Test, GLI3 Gene Sequencing, PHS NGS Panel

GLI3 Gene Pallister-Hall syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the GLI3 Gene Pallister-Hall Syndrome NGS Genetic Test is to confirm or rule out a clinical diagnosis of Pallister-Hall syndrome by detecting pathogenic mutations in the GLI3 gene. This test is indicated for individuals presenting with characteristic features such as polydactyly, hypothalamic hamartomas, or other congenital anomalies suggestive of PHS. It also aids in carrier testing for at-risk family members, prenatal diagnosis in affected families, and risk assessment for asymptomatic relatives. Genetic confirmation is crucial for appropriate medical management, surveillance for associated complications, and genetic counseling for family planning.

Test Code
5893
CPT Code
81407
ICD Code
Q87.8
Price
₹20,000
Sample Type
Blood
Result Time
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications of results. Please bring any relevant medical records or family history documents.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm by a trained phlebotomist. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be sent to our laboratory for analysis. Results will be available in 3-4 weeks.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is recommended to understand the purpose, limitations, and implications of the test. The counselor will draw a pedigree chart and discuss inheritance patterns.
2
During the Test:The test involves a simple blood draw. No special measures are needed.
3
After the Test:Post-test genetic counseling is provided to explain results and discuss management options. You may be referred to specialists for further care.

About This Test

Who Should Get This Test

The purpose of the GLI3 Gene Pallister-Hall Syndrome NGS Genetic Test is to confirm or rule out a clinical diagnosis of Pallister-Hall syndrome by detecting pathogenic mutations in the GLI3 gene. This test is indicated for individuals presenting with characteristic features such as polydactyly, hypothalamic hamartomas, or other congenital anomalies suggestive of PHS. It also aids in carrier testing for at-risk family members, prenatal diagnosis in affected families, and risk assessment for asymptomatic relatives. Genetic confirmation is crucial for appropriate medical management, surveillance for associated complications, and genetic counseling for family planning.

How to Prepare

  • No fasting required
  • Inform the lab if you have had a blood transfusion in the last 2 weeks
  • Ensure the sample is collected in an EDTA vacutainer
  • For FTA card, one drop of blood is sufficient

Doctor's Notes

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

"Pallister-Hall syndrome is a rare autosomal dominant disorder. Genetic confirmation is essential for accurate prognosis and family planning. NGS-based GLI3 sequencing is the gold standard for diagnosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume2-3 ml
ContainerEDTA vacutainer
Collection MethodVenipuncture

Sample Stability

Blood: 24 hours at room temperature, 7 days at 2-8°C
Extracted DNA: stable for 1 year at -20°C
FTA card: stable for 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect labeling
  • Sample received after prolonged transit without proper temperature control
  • Insufficient quantity

Understanding Your Results

The GLI3 gene test report will indicate whether a pathogenic mutation was identified. A positive result confirms the diagnosis of Pallister-Hall syndrome, while a negative result reduces the likelihood but does not completely exclude the condition if clinical suspicion is high. Variants of uncertain significance (VUS) may be reported and require further investigation.
📊

Pathogenic variant detected

Confirms diagnosis of Pallister-Hall syndrome. Genetic counseling is recommended for family members.

📊

Likely pathogenic variant detected

Highly suggestive of PHS. Clinical correlation and family segregation studies may be advised.

📊

Variant of uncertain significance (VUS)

Cannot determine clinical significance. Additional testing of family members may help classify the variant.

📊

No pathogenic variant detected

Does not rule out PHS if clinical features are strong. Consider other genetic causes or re-evaluation.

⚠️ When to Consult a Doctor:

If you or your child have symptoms suggestive of Pallister-Hall syndrome, such as extra digits, hypothalamic hamartomas, or airway anomalies, consult a clinical geneticist or pediatrician. Genetic testing is recommended for accurate diagnosis and management.

Limitations

  • ⚠NGS may not detect large genomic rearrangements or deep intronic variants
  • ⚠Variant of uncertain significance (VUS) may require further family studies
  • ⚠Test does not assess non-genetic causes of similar symptoms
  • ⚠Results should be interpreted in the context of clinical findings and family history

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential for uncertain results (VUS) requiring further testing

Interfering Factors

  • ●Inadequate sample quantity or poor DNA quality
  • ●Contamination during sample collection
  • ●Recent blood transfusion (within 2 weeks) may dilute DNA
  • ●Bone marrow transplantation can affect results
  • ●Presence of large deletions/duplications not detected by standard NGS (requires additional testing)

Compare With Similar Tests

TestGLI3 Gene Pallister-Hall syndrome NGS Genetic TestWhole Exome Sequencing (WES)Targeted GLI3 Sanger SequencingChromosomal Microarray (CMA)
ComparisonGLI3 Gene Pallister-Hall syndrome NGS Genetic Test

Frequently Asked Questions

What is Pallister-Hall syndrome?
Pallister-Hall syndrome is a rare genetic disorder caused by mutations in the GLI3 gene. It is characterized by extra fingers or toes, hypothalamic hamartomas, and other congenital anomalies. It follows an autosomal dominant inheritance pattern.
How is the GLI3 gene test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the GLI3 gene for mutations. A blood sample is collected, DNA is extracted, and the gene is sequenced to identify any pathogenic variants.
What is the cost of the GLI3 gene test in India?
At DNA Labs India, the test costs INR 20,000, which includes free home sample collection and genetic counseling. The price is competitive and affordable compared to other laboratories.
Is fasting required for this test?
No, fasting is not required for the GLI3 gene test. You can eat and drink normally before the blood sample collection.
How long does it take to get the results?
The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory. Reports are delivered via email, WhatsApp, or online portal.
Can this test be done during pregnancy?
Yes, prenatal testing can be performed using fetal DNA obtained through amniocentesis or CVS, but this requires specialized counseling and is done only when indicated.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the GLI3 gene, confirming the diagnosis of Pallister-Hall syndrome. Genetic counseling is recommended for the family.
What if the result is negative?
A negative result means no mutation was found in the GLI3 gene. However, if clinical suspicion is high, other genetic causes may be considered. Your doctor may recommend further testing.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in over 200 cities across India. A trained phlebotomist will visit your location.
Is this test covered by insurance?
Coverage depends on your insurance policy. Some private insurers may cover genetic testing if deemed medically necessary. We recommend checking with your provider.
Who should consider this test?
Individuals with symptoms suggestive of Pallister-Hall syndrome, family members of affected individuals, and couples with a family history of the condition may consider this test.
What is the sample type required?
The preferred sample is 2-3 ml of blood in an EDTA vacutainer. Alternatively, extracted DNA or one drop of blood on an FTA card can be used.
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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