NR0B1 Gene Adrenal hypoplasia NGS Genetic Test
Short Name: NR0B1 Gene Test
Also known as: Adrenal Hypoplasia Congenita NGS Test, NR0B1 Mutation Analysis
NR0B1 Gene Adrenal hypoplasia 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 from sample receipt. 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
To diagnose adrenal hypoplasia by detecting mutations in the NR0B1 gene using NGS technology, guiding appropriate treatment and management.
- Test Code
- 1882
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history review and genetic counselling session recommended to draw a family pedigree chart.
Method: Venipuncture or Finger prick for FTA card
Laboratory Analysis
Blood sample collected via venipuncture or finger prick for FTA card, with minimal discomfort.
Report Delivery
Sample is securely transported to the lab for NGS analysis; follow up with healthcare provider for report interpretation.
Timeline: 3 to 4 Weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To diagnose adrenal hypoplasia by detecting mutations in the NR0B1 gene using NGS technology, guiding appropriate treatment and management.
How to Prepare
- Ensure proper labeling of sample
- Avoid hemolysis by gentle handling
- Use provided containers for stability
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of adrenal hypoplasia through genetic testing is crucial for timely intervention and preventing life-threatening adrenal crises."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed samples
- Insufficient sample volume
- Incorrect sample type or container
Understanding Your Results
Positive for Pathogenic Variant
Mutation detected in NR0B1 gene; indicates adrenal hypoplasia. Clinical correlation and treatment recommended.
Negative
No pathogenic variants detected; adrenal hypoplasia less likely, but clinical evaluation may be needed.
Variant of Uncertain Significance (VUS)
Genetic variant found but significance unknown; requires further testing and genetic counselling.
Carrier Status
Heterozygous carrier detected; may pass mutation to offspring. Genetic counselling advised.
If symptoms like fatigue, weight loss, or low blood pressure persist, or if family history suggests adrenal hypoplasia, consult a healthcare provider for evaluation and testing.
Limitations
- ⚠May not detect all rare variants or deep intronic mutations
- ⚠Results require interpretation by a genetic counselor
- ⚠Not a standalone diagnostic; clinical correlation needed
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Very low risk of infection
- ●No significant genetic risks from testing
Interfering Factors
- ●Sample contamination
- ●Improper sample storage or handling
- ●Hemolysis in blood sample
Compare With Similar Tests
| Test | NR0B1 Gene Adrenal hypoplasia NGS Genetic Test | SF1 Gene Test | ACTH Stimulation Test | Adrenal Hormone Panel | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | NR0B1 Gene Adrenal hypoplasia NGS Genetic Test | Targets different gene for adrenal disorders; less common than NR0B1 test. | Functional hormone test for adrenal insufficiency; complementary to genetic testing. | Measures hormone levels; useful for monitoring but not genetic diagnosis. | Broader genetic analysis; more comprehensive but higher cost. |
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