ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic Test
Short Name: ALAS2 Gene Test
Also known as: Erythropoietic Protoporphyria, X-linked, ALAS2-related Protoporphyria, X-linked Protoporphyria
ALAS2 Gene Protoporphyria, erythropoietic, X-linked 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 3, 2026
Overview
The purpose of the ALAS2 Gene Protoporphyria NGS Genetic Test is to identify mutations in the ALAS2 gene that cause erythropoietic protoporphyria. This aids in confirming diagnosis, guiding treatment decisions, assessing family risk, and enabling genetic counseling for affected individuals and their families.
- Test Code
- 5614
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history and family pedigree during genetic counseling. No specific fasting is required, but inform the lab of any medications or recent procedures.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure using venipuncture. The sample is collected in an EDTA tube for DNA preservation.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store the sample at ambient temperature for transport.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ALAS2 Gene Protoporphyria NGS Genetic Test is to identify mutations in the ALAS2 gene that cause erythropoietic protoporphyria. This aids in confirming diagnosis, guiding treatment decisions, assessing family risk, and enabling genetic counseling for affected individuals and their families.
How to Prepare
- Bring a valid ID and doctor's prescription
- Wear loose clothing for easy blood draw
- Stay hydrated before sample collection
- Avoid strenuous activity post-collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ALAS2 mutations is crucial for accurate diagnosis and management of erythropoietic protoporphyria, especially in males presenting with photosensitivity and anemia. Genetic counseling helps in understanding inheritance patterns and family planning."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample container
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of ALAS2 gene protoporphyria. Genetic counseling recommended for family planning.
Negative for pathogenic variants
No mutations detected in the ALAS2 gene. Clinical correlation advised if symptoms persist.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be needed.
Consult a geneticist or hematologist if you experience persistent photosensitivity, skin symptoms, anemia, or have a family history of protoporphyria. Early consultation can guide testing and management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results may take 3-4 weeks due to sequencing complexity
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or dizziness
- ●Rare risk of infection at puncture site
- ●Emotional impact of genetic results; counseling available
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusion
Frequently Asked Questions
What is ALAS2 gene protoporphyria?
What are the common symptoms?
How is the test performed?
What is the cost of the test in India?
Is home sample collection available?
How long does it take to get results?
What does a positive result mean?
What does a negative result mean?
Is genetic counseling necessary before testing?
Can this test be done for children?
Are there any risks associated with the test?
How accurate is the NGS genetic test?
Related Tests
Reference 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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.