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ABCB7 Gene Anemia, sideroblastic, with ataxia NGS Genetic Test

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ABCB7 Gene Anemia, sideroblastic, with ataxia NGS Genetic Test

Short Name: ABCB7 Gene Anemia NGS Test

Also known as: Sideroblastic anemia with ataxia, ABCB7-related anemia

ABCB7 Gene Anemia, sideroblastic, with ataxia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose ABCB7 gene mutations causing sideroblastic anemia with ataxia, guide treatment, and provide genetic counseling.

Test Code
5578
Price
₹20,000
Sample Type
Blood
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform about any medications or recent transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor.
2
During the Test:Blood sample collection.
3
After the Test:Wait for report and follow-up with doctor.

About This Test

Who Should Get This Test

To diagnose ABCB7 gene mutations causing sideroblastic anemia with ataxia, guide treatment, and provide genetic counseling.

How to Prepare

  • Bring doctor's prescription
  • Carry ID proof
  • Ensure sample is labeled correctly

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for ABCB7 mutations is crucial for managing sideroblastic anemia with ataxia and guiding family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container

Understanding Your Results

Results indicate the presence or absence of mutations in the ABCB7 gene.
Positive: Pathogenic variant detected, confirm diagnosis
Negative: No pathogenic variants, consider other causes
Variant of uncertain significance: Further testing needed
⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or if family history suggests genetic risk.

Limitations

  • May not detect all mutations
  • Results require genetic counseling
  • Not a standalone diagnostic tool

Risks & Considerations

  • Minimal risk from blood draw
  • Bruising or infection at puncture site

Interfering Factors

  • Hemolyzed blood sample
  • Contaminated sample
  • Recent blood transfusion

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Frequently Asked Questions

What is ABCB7 gene anemia?
ABCB7 gene anemia is a rare genetic disorder caused by mutations in the ABCB7 gene, leading to sideroblastic anemia with ataxia, characterized by anemia and neurological symptoms.
What are the symptoms of ABCB7 gene anemia?
Symptoms include fatigue, shortness of breath, pale skin, jaundice, enlarged liver and spleen, and loss of coordination (ataxia).
How is the ABCB7 gene anemia test performed?
The test uses next-generation sequencing (NGS) to analyze the ABCB7 gene from a blood sample.
What is the cost of the ABCB7 gene anemia NGS test in India?
The test costs INR 20000 at DNA Labs India, with home collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get the test results?
Results are typically available within 3-4 weeks.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider.
What if the test result is positive?
A positive result indicates a pathogenic mutation; consult a genetic counselor for management and family planning.
Can children undergo this genetic test?
Yes, the test is suitable for all ages, but pediatric consultation is recommended.
How accurate is the ABCB7 gene anemia test?
NGS technology is highly accurate, but results should be interpreted by a genetic expert.
Do I need a doctor's prescription for this test?
Yes, a doctor's prescription is required for genetic testing.
What is the difference between this test and other genetic tests?
This test specifically targets the ABCB7 gene, while other tests may analyze multiple genes or use different technologies.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

LIMS Integration

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.

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