PROP1 Gene Pituitary hormone deficiency type 2 NGS Genetic Test
Short Name: PROP1 NGS Test
Also known as: PROP1 Gene Mutation Test, Combined Pituitary Hormone Deficiency Panel, CPHD2 Genetic Test
PROP1 Gene Pituitary hormone deficiency type 2 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. You will be notified once the report is ready.. 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 primary purpose of this test is to identify mutations in the PROP1 gene that cause combined pituitary hormone deficiency type 2. This genetic confirmation helps in establishing a definitive diagnosis, enabling early intervention and management. It also aids in genetic counseling for affected families, providing information about inheritance patterns and recurrence risks. Additionally, the test helps differentiate PROP1-related CPHD from other causes of pituitary dysfunction, guiding appropriate treatment strategies.
- Test Code
- 5906
- CPT Code
- 81408
- ICD Code
- E23.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. You will be notified once the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and to draw a pedigree chart of family members affected with the condition.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A small sample of blood will be drawn from a vein in your arm, or a few drops of blood will be collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. There are no restrictions after sample collection.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. You will be notified once the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify mutations in the PROP1 gene that cause combined pituitary hormone deficiency type 2. This genetic confirmation helps in establishing a definitive diagnosis, enabling early intervention and management. It also aids in genetic counseling for affected families, providing information about inheritance patterns and recurrence risks. Additionally, the test helps differentiate PROP1-related CPHD from other causes of pituitary dysfunction, guiding appropriate treatment strategies.
How to Prepare
- For blood sample: Use EDTA tube, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the designated circle, allow to air dry for at least 30 minutes.
- Label the sample with patient name, date, and time of collection.
- Store at room temperature (15-30°C) until shipment.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of PROP1 mutations can guide hormone replacement therapy and improve growth and developmental outcomes. This test is essential for patients with unexplained pituitary hormone deficiencies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample (if EDTA tube not mixed)
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of PROP1-related CPHD2. Genetic counseling recommended for family members.
Likely pathogenic variant detected
Highly suggestive of disease; further evidence may be needed. Clinical correlation advised.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional testing or family segregation studies may be required.
No pathogenic variants detected
No disease-causing mutation found in PROP1 gene. Other genetic or non-genetic causes should be considered.
If you or your child experience symptoms such as growth failure, delayed puberty, or unexplained fatigue, consult an endocrinologist or geneticist. Early diagnosis and treatment can significantly improve outcomes. Also, if you have a family history of pituitary hormone deficiency, genetic counseling and testing are recommended.
Limitations
- ⚠This test only analyzes the PROP1 gene; mutations in other genes causing similar phenotypes will not be detected.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required if clinical suspicion is high.
- ⚠Variants of uncertain significance may require further family studies or functional analysis.
- ⚠Genetic testing cannot predict the severity or exact age of onset of symptoms.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Slight discomfort during blood collection
- ●Psychological impact of genetic results
Interfering Factors
- ●Improper sample collection or storage
- ●Contamination of sample
- ●Recent blood transfusion (may affect DNA extraction)
- ●Bone marrow transplantation (may cause chimerism)
Compare With Similar Tests
| Test | PROP1 Gene Pituitary hormone deficiency type 2 NGS Genetic Test | Whole Exome Sequencing (WES) | Sanger Sequencing | Multigene Panel for Hypopituitarism |
|---|---|---|---|---|
| Comparison | PROP1 Gene Pituitary hormone deficiency type 2 NGS Genetic Test | WES analyzes all coding regions of genes, including PROP1, but is more expensive and time-consuming. Targeted PROP1 testing is more cost-effective for suspected CPHD2. | Sanger sequencing is the gold standard for single-gene testing but is less efficient for large genes. NGS offers higher throughput and can detect mosaicism better. | A panel includes multiple genes associated with pituitary disorders, providing a broader analysis. PROP1-only test is focused and cheaper. |
Frequently Asked Questions
What is the PROP1 gene?
What is the cost of the PROP1 NGS genetic test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Who should consider this test?
What does a positive result mean?
Can this test detect all genetic causes of pituitary hormone deficiency?
Is genetic counseling included?
Is home sample collection available?
What is the turnaround time for reports?
Is this 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.
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✓ 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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