STAT5B Gene Growth hormone insensitivity with immunodeficiency NGS Genetic Test
Short Name: STAT5B Gene Test
Also known as: STAT5B deficiency, Growth hormone insensitivity with immunodeficiency, STAT5B-related immunodeficiency
STAT5B Gene Growth hormone insensitivity with immunodeficiency 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 diagnose STAT5B gene growth hormone insensitivity with immunodeficiency by detecting mutations in the STAT5B gene using NGS technology. It aids in confirming the diagnosis, guiding treatment decisions, and offering genetic counseling for affected families.
- Test Code
- 5409
- 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
Provide detailed clinical history and family pedigree. No special preparation required unless specified.
Method: Venipuncture or finger-prick
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture or finger-prick.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Avoid strenuous activity for a few hours.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose STAT5B gene growth hormone insensitivity with immunodeficiency by detecting mutations in the STAT5B gene using NGS technology. It aids in confirming the diagnosis, guiding treatment decisions, and offering genetic counseling for affected families.
How to Prepare
- Ensure sample is collected in a sterile environment
- Label sample correctly with patient details
- Transport sample at ambient temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing rare genetic disorders affecting growth and immunity. Early detection can guide treatment and management, improving patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of STAT5B deficiency. Genetic counseling and specialist consultation recommended.
No pathogenic variant detected
Unlikely to have STAT5B-related disorder. Consider other genetic tests or clinical evaluation if symptoms persist.
If you experience recurrent infections, growth delays, short stature, or other symptoms mentioned, consult a geneticist or endocrinologist for evaluation and management.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results may vary based on sample quality
Risks & Considerations
- ●Minimal physical risk from blood draw
- ●Psychological impact of genetic diagnosis
- ●Risk of misinterpretation without professional counseling
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample handling
Frequently Asked Questions
What is STAT5B gene growth hormone insensitivity with immunodeficiency?
What are the common symptoms of this condition?
How is this condition diagnosed?
What is the cost of the NGS genetic test in India?
What sample is required for the test?
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Is home sample collection available?
What does a positive result mean?
What does a negative result mean?
Can this test be done for children?
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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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