POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NGS Genetic Test
Short Name: POR Gene NGS Test
Also known as: POR deficiency, P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 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 3-4 weeks from sample receipt. 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 POR Gene NGS Genetic Test is to diagnose adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency by identifying mutations in the POR gene. This aids in confirming clinical diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.
- Test Code
- 1879
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks from sample receipt
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with adrenal hyperplasia.
Method: Venipuncture or cheek swab
Laboratory Analysis
Standard blood draw via venipuncture or cheek swab collection, performed by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bruising; sample is stored at ambient room temperature for transport.
Timeline: 3-4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the POR Gene NGS Genetic Test is to diagnose adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency by identifying mutations in the POR gene. This aids in confirming clinical diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.
How to Prepare
- Ensure proper patient identification and consent
- Use sterile equipment for sample collection
- Label samples correctly with patient details
- For blood samples, use EDTA tubes; for FTA cards, follow protocol for one drop of blood
- 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
"Genetic testing for POR gene mutations is essential for early diagnosis, management, and genetic counseling in families affected by adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Unlabeled or mislabeled samples
- Contaminated samples
Understanding Your Results
Pathogenic variant(s) detected
Confirms diagnosis; indicates genetic cause for adrenal hyperplasia. Genetic counseling and management recommended.
No pathogenic variants detected
Suggests POR gene mutations are not responsible; consider other genetic or non-genetic causes. Clinical correlation advised.
Variant of uncertain significance (VUS)
Requires further analysis and family studies; may not be diagnostic. Follow-up with geneticist recommended.
Consult a doctor immediately if symptoms of adrenal insufficiency (e.g., severe fatigue, dehydration, weight loss) appear, or for interpretation of genetic test results, family planning, and management of adrenal hyperplasia.
Limitations
- ⚠May not detect large deletions, duplications, or deep intronic variants
- ⚠Does not assess for other genetic causes of adrenal hyperplasia
- ⚠Results require interpretation in clinical context by a geneticist
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Risk of infection (minimal with proper technique)
- ●Psychological impact of genetic results; counseling provided
Interfering Factors
- ●Sample degradation or contamination
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusion may affect results
Compare With Similar Tests
| Test | POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NGS Genetic Test | CYP21A2 Gene Test for Congenital Adrenal Hyperplasia | StAR Gene Test for Lipoid Adrenal Hyperplasia | Hormonal Assays for Steroid Levels |
|---|---|---|---|---|
| Comparison | POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NGS Genetic Test | Focuses on 21-hydroxylase deficiency; POR test specifically targets cytochrome P450 oxidoreductase deficiency. | Different gene and disorder; POR test is for steroid synthesis defects due to POR mutations. | Measures hormone levels; POR gene test provides genetic diagnosis for underlying cause. |
Frequently Asked Questions
What is adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency?
How is the POR gene NGS test performed?
What are the symptoms of POR deficiency?
How much does the POR gene NGS test cost in India?
How long does it take to get results?
Is home sample collection available?
What samples are required for the test?
Is genetic counseling necessary before the test?
Can the test detect all mutations in the POR gene?
What are the treatment options after diagnosis?
Is the test covered by insurance?
How accurate is the NGS genetic test?
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