FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test
Short Name: FGFR1 Kallmann Type 2 NGS Test
Also known as: Kallmann Syndrome Type 2, FGFR1-related Kallmann syndrome, Hypogonadotropic Hypogonadism with Anosmia
FGFR1 Gene Kallmann syndrome type 2 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic Test is to identify mutations in the FGFR1 gene responsible for Kallmann Syndrome Type 2. This test aids in confirming diagnosis, guiding treatment decisions, assessing family risk, and enabling genetic counseling for affected individuals and their families.
- Test Code
- 2612
- 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
- NGS Technology
Sample Collection
No specific preparation required. Provide clinical history and family pedigree chart as advised during genetic counseling.
Method: Venipuncture or finger-prick
Laboratory Analysis
Blood sample collected via venipuncture or finger-prick. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples at ambient temperature as per instructions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic Test is to identify mutations in the FGFR1 gene responsible for Kallmann Syndrome Type 2. This test aids in confirming diagnosis, guiding treatment decisions, assessing family risk, and enabling genetic counseling for affected individuals and their families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly
- Transport samples to the lab within specified stability period
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through NGS testing is crucial for managing Kallmann Syndrome Type 2, enabling timely intervention to address hormonal imbalances and improve quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or container
Understanding Your Results
Positive for FGFR1 mutation
Confirms diagnosis of Kallmann Syndrome Type 2. Genetic counseling and endocrine evaluation recommended.
Negative for FGFR1 mutation
No pathogenic variants detected in FGFR1 gene. Consider other genetic tests or clinical evaluation.
Variant of uncertain significance
Further testing and family studies may be needed for clarification.
Consult a doctor if you experience symptoms such as delayed puberty, infertility, or loss of smell, especially with a family history of Kallmann Syndrome. Early diagnosis can facilitate appropriate management.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Results require clinical correlation
- ⚠Does not rule out other genetic causes of hypogonadotropic hypogonadism
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Frequently Asked Questions
What is Kallmann Syndrome Type 2?
How is the FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic Test performed?
What is the cost of the test in India?
Is fasting required for this test?
How long does it take to get the results?
What are the symptoms of Kallmann Syndrome Type 2?
Is the test accurate?
Can this test be done at home?
What should I do if the test is positive?
Is genetic counseling available?
Are there any risks associated with the test?
Is the test covered by insurance?
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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.
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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