ALAD Gene Acute hepatic porphyria NGS Genetic Test
Short Name: ALAD Gene AHP NGS Genetic Test
Also known as: ALAD Deficiency, Aminolevulinate Dehydratase Deficiency Porphyria
ALAD Gene Acute hepatic porphyria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood 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
To detect mutations in the ALAD gene that cause Acute Hepatic Porphyria, enabling accurate diagnosis, carrier testing, genetic counseling, and personalized management to prevent acute attacks and improve quality of life.
- Test Code
- 1872
- ICD Code
- E80.2
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Inform the healthcare provider about any medications, supplements, or recent blood transfusions.
Method: Venipuncture
Laboratory Analysis
A blood sample (5-10 mL) will be drawn from a vein in your arm by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site with a cotton ball to prevent bleeding. You can resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the ALAD gene that cause Acute Hepatic Porphyria, enabling accurate diagnosis, carrier testing, genetic counseling, and personalized management to prevent acute attacks and improve quality of life.
How to Prepare
- Stay hydrated before sample collection
- Avoid strenuous activity on the day of collection
- Bring any relevant medical records or genetic history
- Wear loose clothing for easy access to the arm
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of ALAD-related porphyria, helping to prevent acute attacks and improve patient outcomes through personalized care and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume (< 3 mL)
- Contaminated or hemolyzed sample
- Improperly labeled or unlabeled sample
- Sample older than stability period
Understanding Your Results
Positive
Pathogenic variant detected in the ALAD gene, consistent with ALAD deficiency porphyria. Consult a genetic counselor for management, family screening, and lifestyle modifications to prevent acute attacks.
Negative
No pathogenic variants detected in the ALAD gene. However, clinical symptoms may still indicate porphyria; further testing or clinical evaluation is recommended.
Variant of Unknown Significance (VUS)
A genetic variant was detected but its clinical significance is uncertain. Follow-up with periodic review and genetic counseling is advised.
If you experience symptoms of porphyria such as severe abdominal pain, neurological issues, or skin sensitivity, or if there is a family history of porphyria, consult a geneticist or metabolic specialist immediately for evaluation and possible testing.
Limitations
- ⚠May not detect all genetic variants, including large deletions
- ⚠Variants of unknown significance (VUS) may be reported without clinical correlation
- ⚠Does not rule out other types of porphyria or metabolic disorders
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising, soreness, or rare infection at the puncture site
- ●Psychological impact of genetic results, including anxiety or stress
- ●Potential for incidental findings unrelated to porphyria
Interfering Factors
- ●Contaminated DNA sample
- ●Recent blood transfusion affecting DNA analysis
- ●Sample degradation due to improper storage
Compare With Similar Tests
| Test | ALAD Gene Acute hepatic porphyria NGS Genetic Test | HMBS Gene Acute Intermittent Porphyria NGS Test | CPOX Gene Hereditary Coproporphyria NGS Test | Total Porphyrin Test |
|---|---|---|---|---|
| Comparison | ALAD Gene Acute hepatic porphyria NGS Genetic Test | Tests for mutations in the HMBS gene, which causes acute intermittent porphyria, another type of AHP with similar symptoms but different enzyme deficiency. | Targets the CPOX gene for hereditary coproporphyria, which may present with both acute and cutaneous symptoms. | A biochemical test measuring porphyrin levels in urine or blood, often used for initial screening but less specific than genetic testing. |
Frequently Asked Questions
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