NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test
Short Name: NNT Gene GC Deficiency Type 4 NGS Test
Also known as: NNT-related adrenal insufficiency, Familial glucocorticoid deficiency type 4
NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the NNT gene using NGS technology for accurate diagnosis of glucocorticoid deficiency type 4, aiding in clinical management, family planning, and prevention of adrenal crises.
- Test Code
- 2009
- 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)
Sample Collection
A genetic counseling session is recommended to discuss test implications and draw a pedigree chart of family members. Provide complete clinical history of the patient.
Method: Venipuncture or Drop blood on FTA Card
Laboratory Analysis
Standard blood draw procedure using venipuncture or spot blood on FTA card, ensuring aseptic conditions.
Report Delivery
Sample is labeled, processed for DNA extraction, and sent to the laboratory for NGS analysis. Maintain sample integrity during transport.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the NNT gene using NGS technology for accurate diagnosis of glucocorticoid deficiency type 4, aiding in clinical management, family planning, and prevention of adrenal crises.
How to Prepare
- Provide detailed clinical history and family pedigree chart
- Ensure proper sample labeling and documentation
- Follow instructions for blood collection or FTA card use
- Store sample at appropriate temperature until shipment
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for NNT mutations is crucial for early intervention in glucocorticoid deficiency, preventing life-threatening adrenal crises and guiding personalized management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
- Expired or damaged FTA cards
Understanding Your Results
Pathogenic mutation detected
Confirms diagnosis of NNT gene glucocorticoid deficiency type 4. Genetic counseling and endocrine management recommended.
No pathogenic mutation detected
No mutations identified; clinical symptoms may be due to other causes. Consider additional testing.
Variant of uncertain significance
Further research needed; clinical correlation and family studies advised.
If symptoms such as chronic fatigue, unexplained weight loss, or low blood pressure persist, or if there is a family history of adrenal insufficiency, consult a geneticist or endocrinologist for evaluation and testing.
Limitations
- ⚠May not detect all possible mutations or structural variants
- ⚠Results may include variants of uncertain significance requiring further evaluation
- ⚠Test does not assess for other adrenal disorders without additional genetic analysis
- ⚠Interpretation requires clinical correlation and genetic counseling
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic results, requiring counseling
- ●Potential for incidental findings unrelated to the condition
Interfering Factors
- ●Sample contamination or degradation
- ●Incorrect sample storage or handling
- ●Recent blood transfusion may affect DNA analysis
- ●Insufficient DNA yield from sample
Compare With Similar Tests
| Test | NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test | ACTH Stimulation Test | Cortisol Level Test | CYP21A2 Gene Test | Adrenal Antibody Test |
|---|---|---|---|---|---|
| Comparison | NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test |
Frequently Asked Questions
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