MC2R Gene Glucocorticoid deficiency type 1 NGS Genetic Test
Short Name: MC2R Gene Test
Also known as: Familial Glucocorticoid Deficiency Type 1, MC2R-Related Glucocorticoid Deficiency
MC2R Gene Glucocorticoid deficiency type 1 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
The purpose of this test is to detect mutations in the MC2R gene that cause glucocorticoid deficiency type 1, enabling accurate diagnosis, informing treatment strategies, and supporting genetic counseling for affected individuals and families.
- Test Code
- 2008
- 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
Genetic counseling is recommended to discuss test implications, obtain informed consent, and document clinical and family history.
Method: Venipuncture or FTA card application
Laboratory Analysis
Blood sample is collected via standard venipuncture, or DNA is extracted from provided sources like FTA cards, following aseptic techniques.
Report Delivery
Samples are processed for DNA extraction and subjected to NGS analysis, with results compiled into a clinical report.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the MC2R gene that cause glucocorticoid deficiency type 1, enabling accurate diagnosis, informing treatment strategies, and supporting genetic counseling for affected individuals and families.
How to Prepare
- Provide accurate patient and family history
- Ensure proper labeling of samples
- Avoid eating if specified for other tests
- Use sterile collection equipment
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for MC2R mutations is crucial for accurate diagnosis and management of glucocorticoid deficiency, aiding in personalized treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed, clotted, or contaminated samples
- Mismatched patient identification
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of glucocorticoid deficiency type 1 due to MC2R gene mutation; recommend cortisol replacement therapy and monitoring.
Negative result
No pathogenic variants detected in MC2R gene; consider other genetic or non-genetic causes of symptoms.
Variant of Uncertain Significance (VUS)
Genetic variant found with unclear clinical significance; further testing, family studies, or follow-up recommended.
If you experience symptoms of adrenal insufficiency such as chronic fatigue, unexplained weight loss, or low blood pressure, or if you have a family history of glucocorticoid deficiency, consult a physician or genetic specialist for evaluation.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Results require clinical correlation and genetic counseling
- ⚠Cannot assess non-genetic causes of glucocorticoid deficiency
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Hemolysis in blood samples
- ●Improper sample storage
Compare With Similar Tests
| Test | MC2R Gene Glucocorticoid deficiency type 1 NGS Genetic Test | ACTH Stimulation Test | Cortisol Level Test | MC2R Gene Deletion/Duplication Analysis | Adrenal Insufficiency Genetic Panel |
|---|---|---|---|---|---|
| Comparison | MC2R Gene Glucocorticoid deficiency type 1 NGS Genetic Test | Measures adrenal function response but does not identify underlying genetic causes. | Evaluates cortisol levels in blood but cannot detect specific gene mutations. | Focuses on structural variants, while NGS covers point mutations and small indels. | May include multiple genes, whereas this test is specific to MC2R. |
Frequently Asked Questions
What is the MC2R Gene Glucocorticoid Deficiency Type 1 NGS Genetic Test?
What is the cost of the test?
How is the sample collected for the test?
How long does it take to get the test results?
Is home sample collection available for this test?
What are the symptoms of glucocorticoid deficiency type 1?
Who should consider getting this genetic test?
How accurate is the NGS genetic test for MC2R mutations?
What does a positive test result mean?
Is genetic counseling required before taking the test?
Does insurance cover the cost of this genetic test?
What if the test result is negative but symptoms persist?
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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.
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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