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GLIS2 Gene Nephronophthisis type 7 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GLIS2 Gene Nephronophthisis type 7 NGS Genetic Test

Short Name: GLIS2 Gene NPHP7 Test

Also known as: Nephronophthisis Type 7 Genetic Test, GLIS2 Mutation Analysis, NPHP7 NGS Test

GLIS2 Gene Nephronophthisis type 7 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 diagnose Nephronophthisis Type 7 (NPHP7) by detecting mutations in the GLIS2 gene, enabling early intervention, management, and genetic counseling for affected individuals and families.

Test Code
2629
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

No specific preparation required. Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card. Minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test purpose, implications, and family history. No fasting required.
2
During the Test:Sample collection via blood draw or FTA card. Procedure takes a few minutes.
3
After the Test:Results available in 3-4 weeks. Genetic counseling recommended to interpret results.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Nephronophthisis Type 7 (NPHP7) by detecting mutations in the GLIS2 gene, enabling early intervention, management, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient temperature as per guidelines

Doctor's Notes

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

"Early genetic testing for NPHP7 can confirm diagnosis, guide management, and assist in family planning and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood in EDTA tube: stable for 7 days at room temperature
FTA card: stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GLIS2 gene. Positive results confirm NPHP7 diagnosis, while negative results may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of Nephronophthisis Type 7. Genetic counseling and nephrology referral recommended.

📊

Negative for pathogenic variant

No mutations detected in GLIS2 gene. Clinical correlation and additional testing may be needed.

📊

Variant of uncertain significance (VUS)

Genetic variant identified but clinical significance unknown. Follow-up testing and family studies advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you have symptoms of kidney disease, a family history of nephronophthisis, or after receiving test results for appropriate management and genetic counseling.

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 or non-genetic causes of kidney disease

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results
  • ●Potential for uncertain results requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Improper sample storage or handling

Compare With Similar Tests

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Frequently Asked Questions

What is the GLIS2 Gene Nephronophthisis Type 7 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the GLIS2 gene, causing Nephronophthisis Type 7, a rare kidney disorder.
What are the symptoms of Nephronophthisis Type 7?
Symptoms include increased urination, excessive thirst, reduced urine output, progressive kidney failure, high blood pressure, anemia, delayed growth, and retinal degeneration.
How is the test performed?
The test is performed on a blood or saliva sample using NGS technology to analyze the GLIS2 gene for mutations.
What is the cost of the test?
The cost is INR 20000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms a diagnosis of Nephronophthisis Type 7, and genetic counseling and nephrology referral are recommended.
Can the test be used for family planning?
Yes, genetic testing can inform family planning decisions through carrier testing and genetic counseling.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
What are the risks of the test?
Risks are minimal, including bruising from blood draw, but psychological impact of results should be considered.
How should I prepare for the test?
No special preparation is needed, but a genetic counseling session is recommended to discuss implications and family history.
What if the test result is negative?
A negative result means no pathogenic variants were detected in the GLIS2 gene, but further clinical evaluation may be needed if symptoms persist.
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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