GNRH1 Gene Hypogonadotropic hypogonadism type 12 with or without anosmia NGS Genetic Test
Short Name: GNRH1 Hypogonadism Type 12 Test
Also known as: GNRH1-related hypogonadism, Congenital hypogonadotropic hypogonadism type 12
GNRH1 Gene Hypogonadotropic hypogonadism type 12 with or without anosmia 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 detect mutations in the GNRH1 gene to confirm a diagnosis of hypogonadotropic hypogonadism type 12 with or without anosmia, guide treatment decisions, and provide genetic counseling for affected individuals and families.
- Test Code
- 5439
- 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
No specific preparation required. Ensure genetic counseling is completed.
Method: Venipuncture or blood drop
Laboratory Analysis
A small blood sample will be drawn from a vein in the arm or a blood drop on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the GNRH1 gene to confirm a diagnosis of hypogonadotropic hypogonadism type 12 with or without anosmia, guide treatment decisions, and provide genetic counseling for affected individuals and families.
How to Prepare
- Fast for 8-12 hours if specified, though not typically required
- Bring identification and referral documents
- Inform staff of any medications or health conditions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing genetic causes of reproductive disorders. Early detection can guide treatment options such as hormone therapy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of GNRH1-related hypogonadotropic hypogonadism. Genetic counseling and treatment planning recommended.
Negative for pathogenic mutation
No mutations detected in the GNRH1 gene. Consider other genetic or non-genetic causes.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a healthcare professional if you experience symptoms such as delayed puberty, infertility, or anosmia, or if you have a family history of hypogonadotropic hypogonadism.
Limitations
- ⚠May not detect all possible mutations
- ⚠Results require clinical correlation
- ⚠Not a standalone diagnostic tool
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare risk of infection
- ●Minimal discomfort during blood draw
Interfering Factors
- ●Poor sample quality
- ●Contaminated DNA
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | GNRH1 Gene Hypogonadotropic hypogonadism type 12 with or without anosmia NGS Genetic Test | KAL1 Gene Test for Kallmann Syndrome | FGFR1 Gene Test | PROKR2 Gene Test | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | GNRH1 Gene Hypogonadotropic hypogonadism type 12 with or without anosmia NGS Genetic Test | Detects mutations in KAL1 gene, another cause of hypogonadotropic hypogonadism with anosmia. | Identifies mutations in FGFR1 gene associated with hypogonadotropic hypogonadism. | Tests for mutations in PROKR2 gene linked to reproductive disorders. | Comprehensive genetic test that may identify mutations in multiple genes, including GNRH1. |
Frequently Asked Questions
What is the GNRH1 gene hypogonadotropic hypogonadism type 12 with or without anosmia NGS genetic test?
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₹20,000Reference 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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