Skip to main content
DNA Labs India

CHRNG Gene Pterygium syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CHRNG Gene Pterygium syndrome NGS Genetic Test

Short Name: CHRNG Gene Pterygium Syndrome Test

CHRNG Gene Pterygium syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS) Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Pterygium Syndrome by identifying mutations in the CHRNG gene using Next Generation Sequencing (NGS) technology, facilitating early intervention and genetic counseling.

Test Code
5123
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications. Provide detailed clinical history and family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

Sample is processed and sent to the laboratory for NGS analysis. Reports are delivered in 3-4 weeks.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and review of clinical history and family pedigree.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Laboratory analysis, report generation, and delivery with genetic counseling follow-up.

About This Test

Who Should Get This Test

To diagnose Pterygium Syndrome by identifying mutations in the CHRNG gene using Next Generation Sequencing (NGS) technology, facilitating early intervention and genetic counseling.

How to Prepare

  • No specific fasting required unless advised by physician
  • Avoid strenuous physical activity before sample collection
  • Bring valid identification and prescription or referral

Doctor's Notes

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

"Early diagnosis through NGS testing is crucial for managing Pterygium Syndrome and providing appropriate care, including genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CHRNG gene associated with Pterygium Syndrome.
📊

Pathogenic variant detected

Confirms diagnosis of Pterygium Syndrome. Genetic counseling and management planning are recommended.

📊

No pathogenic variant detected

Reduces likelihood of CHRNG-related Pterygium Syndrome. Clinical correlation and further evaluation may be needed.

⚠️ When to Consult a Doctor:

If symptoms of Pterygium Syndrome are present, such as pterygia or limb abnormalities, or if there is a family history of the disorder. Consult a geneticist or dermatologist for evaluation.

Limitations

  • May not detect all possible mutations in the CHRNG gene
  • Results require interpretation by a genetic counselor or specialist
  • Not a standalone diagnostic tool; clinical correlation is necessary

Risks & Considerations

  • Minimal risk associated with blood draw, such as bruising or infection
  • Potential psychological impact of genetic test results on individuals and families

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed blood sample

Compare With Similar Tests

TestCHRNG Gene Pterygium syndrome NGS Genetic TestSanger SequencingWhole Exome Sequencing
ComparisonCHRNG Gene Pterygium syndrome NGS Genetic Test

Frequently Asked Questions

What is Pterygium Syndrome?
Pterygium Syndrome is a rare genetic disorder characterized by pterygia (triangular skin folds from eyes to ears), ear abnormalities, limb defects, and dental issues, caused by mutations in the CHRNG gene.
What causes Pterygium Syndrome?
It is caused by mutations in the CHRNG gene, which disrupts the neuromuscular junction, leading to developmental abnormalities.
How is Pterygium Syndrome diagnosed?
Diagnosis involves clinical examination for symptoms and genetic testing, such as NGS, to identify mutations in the CHRNG gene.
What is the cost of CHRNG Gene Pterygium Syndrome NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
Is fasting required before the test?
No, fasting is not required unless specified by your physician.
Can the test detect all mutations in the CHRNG gene?
The test uses NGS to analyze the CHRNG gene, but it may not detect all possible mutations; genetic counseling is recommended.
What are the symptoms of Pterygium Syndrome?
Symptoms include pterygia, small or absent ears, finger and toe abnormalities, underdeveloped limb muscles, and dental issues.
Is genetic counseling necessary before and after the test?
Yes, genetic counseling is recommended to understand test implications, results, and family planning.
How accurate is the NGS genetic test for Pterygium Syndrome?
NGS is a highly accurate method for detecting mutations in the CHRNG gene, but results should be interpreted by a qualified geneticist.
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.

Related Tests

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.