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NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test

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NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test

Short Name: NNT Gene GCD4 NGS Test

Also known as: Glucocorticoid deficiency type 4, GCD4, NNT gene disorder

NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency 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.

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 3, 2026

Overview

To diagnose glucocorticoid deficiency type 4 by detecting pathogenic mutations in the NNT gene using Next-Generation Sequencing (NGS) technology, enabling accurate clinical management and genetic counseling.

Test Code
5401
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
Yes
Method
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card, following standard aseptic techniques.

Step 3

Report Delivery

Sample is processed for DNA extraction and analyzed using NGS technology; results are reviewed by geneticists.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before sample collection.
2
During the Test:Blood sample is drawn and sent for NGS analysis in the laboratory.
3
After the Test:Results are interpreted by a geneticist, and a report is delivered with recommendations.

About This Test

Who Should Get This Test

To diagnose glucocorticoid deficiency type 4 by detecting pathogenic mutations in the NNT gene using Next-Generation Sequencing (NGS) technology, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Blood sample collected via venipuncture or FTA card

Doctor's Notes

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

"Genetic testing for NNT gene mutations is essential for accurate diagnosis of glucocorticoid deficiency type 4, enabling targeted treatment and family counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the NNT gene associated with glucocorticoid deficiency type 4.
Positive result: Pathogenic mutation detected, confirming diagnosis
Negative result: No pathogenic variants found, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If you experience symptoms of adrenal insufficiency or have a family history of GCD4, consult an endocrinologist or geneticist for evaluation and management.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Does not assess other genes involved in adrenal function
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant risks associated with genetic testing itself

Interfering Factors

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

Compare With Similar Tests

TestNNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic TestMC2R Gene SequencingSTAR Gene Analysis
ComparisonNNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test

Frequently Asked Questions

What is NNT Gene Glucocorticoid Deficiency Type 4?
It is a rare genetic disorder caused by mutations in the NNT gene, leading to impaired cortisol production and adrenal insufficiency.
What are the symptoms of GCD4?
Symptoms include hypoglycemia, dehydration, fatigue, low blood pressure, increased skin pigmentation, and sometimes salt cravings.
How is GCD4 diagnosed?
Diagnosis is confirmed through NGS genetic testing to detect mutations in the NNT gene, often supported by blood tests for cortisol levels.
What is the cost of the NGS genetic test in India?
The test costs approximately INR 20,000, with home sample collection available in major cities.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms the presence of pathogenic NNT gene mutations, indicating glucocorticoid deficiency type 4.
Can GCD4 be treated?
Yes, treatment involves hormone replacement therapy to manage cortisol deficiency and address symptoms.
Is genetic counseling necessary before the test?
Yes, genetic counseling is recommended to understand the test implications, inheritance patterns, and family risks.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising; genetic testing itself poses no physical risks.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting gene mutations, but results should be correlated with clinical findings.
What should I do if I have a family history of adrenal insufficiency?
Consult a healthcare provider for genetic testing and counseling to assess your risk and guide management.
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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