HMBS Gene Porphyria acute intermittent NGS Genetic Test
Short Name: HMBS Gene Test
Also known as: Acute Intermittent Porphyria Genetic Test, HMBS Gene Analysis, AIP Genetic Test
HMBS Gene Porphyria acute intermittent NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Genetic Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 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 this test is to identify pathogenic variants in the HMBS gene to confirm the diagnosis of acute intermittent porphyria, assess carrier status, guide treatment decisions, and facilitate genetic counseling for at-risk family members.
- Test Code
- 2214
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Genetic Analysis
Sample Collection
Consult with a genetic counselor to discuss test implications and provide informed consent.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities unless otherwise advised.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the HMBS gene to confirm the diagnosis of acute intermittent porphyria, assess carrier status, guide treatment decisions, and facilitate genetic counseling for at-risk family members.
How to Prepare
- Ensure patient ID is verified
- Use aseptic techniques
- Label sample properly 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
"Genetic testing for acute intermittent porphyria is crucial for early diagnosis and management, especially in individuals with a family history or unexplained symptoms. It helps in tailoring treatment and preventive measures."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample hemolyzed or clotted
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Sample collected in inappropriate container
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of AIP; genetic counseling and management advised
Variant of uncertain significance (VUS)
Further testing and clinical correlation recommended
No pathogenic variant detected
Reduces likelihood of genetic AIP, but clinical evaluation continues
Consult a healthcare provider if you experience unexplained abdominal pain, neurological symptoms, or have a family history of porphyria. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or intronic mutations
- ⚠Results require clinical correlation and genetic counseling
- ⚠Turnaround time may vary based on sample volume
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Extremely rare risk of infection or fainting
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | HMBS Gene Porphyria acute intermittent NGS Genetic Test | PBG Deaminase Activity Test | Urine Porphyrin Test | Comprehensive Porphyria Panel |
|---|---|---|---|---|
| Comparison | HMBS Gene Porphyria acute intermittent NGS Genetic Test |
Frequently Asked Questions
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