PROK2 Gene Kallmann syndrome type 4 NGS Genetic Test
Short Name: PROK2 NGS Test
Also known as: PROK2 Gene Mutation Test, Kallmann Syndrome Type 4 Genetic Test, PROK2 Sequencing
PROK2 Gene Kallmann syndrome type 4 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 Reports are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of the PROK2 Gene NGS Genetic Test is to detect mutations in the PROK2 gene that cause Kallmann Syndrome Type 4. This test confirms the clinical diagnosis, helps in carrier identification for family planning, and guides genetic counseling. It also aids in differentiating Kallmann syndrome from other forms of hypogonadotropic hypogonadism, enabling targeted management.
- Test Code
- 5806
- CPT Code
- 81407
- ICD Code
- E23.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. A genetic counseling session is recommended to draw a pedigree chart. Please provide clinical history and any prior genetic test results.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a fingerstick blood drop is applied.
Report Delivery
No special precautions. You may resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PROK2 Gene NGS Genetic Test is to detect mutations in the PROK2 gene that cause Kallmann Syndrome Type 4. This test confirms the clinical diagnosis, helps in carrier identification for family planning, and guides genetic counseling. It also aids in differentiating Kallmann syndrome from other forms of hypogonadotropic hypogonadism, enabling targeted management.
How to Prepare
- For blood: Use EDTA tube, mix gently.
- For FTA card: Apply one drop of blood, allow to air dry.
- Label sample with patient ID and date.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for PROK2 mutations is essential for accurate diagnosis and family counseling in Kallmann syndrome type 4."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Kallmann Syndrome Type 4. Genetic counseling recommended.
Likely pathogenic variant detected
Highly suggestive of disease; further family studies may be needed.
Variant of uncertain significance (VUS)
Cannot confirm diagnosis; additional testing or segregation analysis may be required.
No pathogenic variant detected
Does not rule out Kallmann syndrome; other genes may be involved.
If you or your child experience delayed puberty, anosmia, or have a family history of Kallmann syndrome, consult a clinical geneticist or endocrinologist for evaluation and genetic testing.
Limitations
- ⚠This test only analyzes the PROK2 gene; mutations in other genes (e.g., ANOS1, FGFR1) may cause similar phenotypes.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠NGS may not detect large deletions/duplications; additional testing may be needed.
- ⚠Test does not assess functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising at venipuncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor DNA quality from improper sample handling
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplant (chimerism)
Compare With Similar Tests
| Test | PROK2 Gene Kallmann syndrome type 4 NGS Genetic Test | ANOS1 Gene Sequencing | FGFR1 Gene Sequencing | Kallmann Syndrome Panel (Multiple Genes) |
|---|---|---|---|---|
| Comparison | PROK2 Gene Kallmann syndrome type 4 NGS Genetic Test |
Frequently Asked Questions
What is Kallmann Syndrome Type 4?
How is the PROK2 gene NGS test performed?
What is the cost of the PROK2 gene test in India?
How long does it take to get results?
Is fasting required for this test?
Can this test detect carriers of Kallmann syndrome?
What is the sample type for this test?
Is genetic counseling included?
What does a negative result mean?
Are there any risks associated with the test?
Can this test be done for children?
Is home sample collection available?
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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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