POU1F1 Gene Pituitary hormone deficiency type 1 NGS Genetic Test
Short Name: POU1F1 NGS Test
Also known as: POU1F1 Gene Mutation Test, Combined Pituitary Hormone Deficiency Panel, CPHD1 Genetic Test
POU1F1 Gene Pituitary hormone 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. 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 NGS genetic test is to confirm a clinical diagnosis of POU1F1-related combined pituitary hormone deficiency type 1 by identifying pathogenic mutations in the POU1F1 gene. It aids in genetic counseling, prognosis, and management decisions.
- Test Code
- 5904
- CPT Code
- 81405
- ICD Code
- E23.0
- 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 special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test.
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 specific aftercare is needed. The sample will be transported to the laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of POU1F1-related combined pituitary hormone deficiency type 1 by identifying pathogenic mutations in the POU1F1 gene. It aids in genetic counseling, prognosis, and management decisions.
How to Prepare
- Ensure the patient's identity is verified.
- Use EDTA tube for blood collection.
- For FTA card, allow the blood spot to dry completely before packaging.
- Label the sample with patient's name and date of birth.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of POU1F1 mutations is crucial for timely hormone replacement therapy and optimal growth outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of POU1F1-related CPHD1. Genetic counseling and family screening recommended.
Variant of uncertain significance (VUS)
Further testing of family members may help classify the variant. Clinical correlation with hormone levels is essential.
No pathogenic variant detected
Does not exclude CPHD1. Consider testing other genes or alternative causes.
Consult an endocrinologist or geneticist if the patient exhibits growth retardation, delayed puberty, or low hormone levels, or if there is a family history of pituitary hormone deficiency.
Limitations
- ⚠This test detects mutations in the POU1F1 gene only; other genes causing pituitary hormone deficiency are not covered.
- ⚠Variant of unknown significance (VUS) may be reported; further familial testing may be required.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be needed.
- ⚠Test does not assess hormone levels; clinical correlation is required.
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contamination of sample during collection
- ●Insufficient DNA quantity or quality
- ●Maternal cell contamination in prenatal samples
- ●Recent blood transfusion (within 2 weeks)
Compare With Similar Tests
| Test | POU1F1 Gene Pituitary hormone deficiency type 1 NGS Genetic Test | PROP1 Gene NGS Test | Pituitary Hormone Deficiency Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | POU1F1 Gene Pituitary hormone deficiency type 1 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the POU1F1 gene NGS genetic test?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
What does the test detect?
Is home sample collection available?
Will I receive raw data files?
Who should take this test?
Is genetic counseling included?
What is the turnaround time for reports?
Can the test be done on children?
What is the CPT code for this 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.
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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