ALAS2 Gene Anemia, sideroblastic, X-linked NGS Genetic Test
Short Name: ALAS2 Gene Test
Also known as: Sideroblastic Anemia, X-linked, ALAS2-related Anemia, X-linked Sideroblastic Anemia
ALAS2 Gene Anemia, sideroblastic, 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the ALAS2 Gene Anemia NGS Genetic Test is to diagnose X-linked sideroblastic anemia by identifying mutations in the ALAS2 gene. This helps in confirming the genetic cause of anemia, guiding treatment strategies, and providing information for genetic counseling and family planning.
- Test Code
- 5579
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree chart as advised during genetic counseling.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture by a trained phlebotomist. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately. Store sample at ambient temperature for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ALAS2 Gene Anemia NGS Genetic Test is to diagnose X-linked sideroblastic anemia by identifying mutations in the ALAS2 gene. This helps in confirming the genetic cause of anemia, guiding treatment strategies, and providing information for genetic counseling and family planning.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
- Transport sample to the lab within 48 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for diagnosing X-linked sideroblastic anemia, guiding genetic counseling, and informing treatment decisions, especially in families with a history of the disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling or container
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of X-linked sideroblastic anemia. Genetic counseling and targeted treatment recommended.
Negative for pathogenic variant
No mutation detected in ALAS2 gene. Consider other causes of anemia or additional genetic testing.
Variant of uncertain significance (VUS)
Mutation detected but clinical significance unknown. Follow-up with genetic counseling and family studies advised.
Consult a doctor if you experience symptoms of anemia such as fatigue, weakness, or shortness of breath, especially with a family history of blood disorders. After receiving test results, seek genetic counseling for interpretation and management.
Limitations
- ⚠May not detect all possible mutations in the ALAS2 gene
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other causes of anemia
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusion may affect results
Frequently Asked Questions
What is ALAS2 gene anemia?
What are the symptoms of ALAS2 gene anemia?
How is ALAS2 gene anemia diagnosed?
What is the cost of the ALAS2 Gene Anemia NGS Genetic Test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
Is the NGS genetic test accurate?
Who should consider getting tested for ALAS2 gene anemia?
Is genetic counseling required before the test?
What are the risks associated with the test?
Is the test covered by insurance or government schemes?
How should I prepare for the test?
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