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DNA Labs India

HSPA9 Gene Anemia, sideroblastic, type 4 NGS Genetic Test

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HSPA9 Gene Anemia, sideroblastic, type 4 NGS Genetic Test

Short Name: HSPA9 Sideroblastic Anemia Test

Also known as: Sideroblastic Anemia Type 4, HSPA9-Related Anemia

HSPA9 Gene Anemia, sideroblastic, type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) 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.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect mutations in the HSPA9 gene associated with sideroblastic anemia type 4 for accurate diagnosis, genetic counseling, and personalized management.

Test Code
5575
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)
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick onto FTA card or in EDTA tube.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; store sample as instructed.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and implications of testing.
2
During the Test:Sample collection, DNA extraction, and NGS sequencing in the laboratory.
3
After the Test:Data analysis, variant interpretation, and report generation by genetic experts.

About This Test

Who Should Get This Test

To detect mutations in the HSPA9 gene associated with sideroblastic anemia type 4 for accurate diagnosis, genetic counseling, and personalized management.

How to Prepare

  • No fasting required unless specified by physician
  • Bring valid identification and prescription
  • Follow pre-test instructions from genetic counselor

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early diagnosis through NGS testing can guide treatment and improve outcomes for patients with HSPA9 gene anemia."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeStandard volume for DNA extraction
ContainerFTA Card or EDTA Tube
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood: Stable for 24 hours at room temperature
Extracted DNA: Stable for years if stored at -20°C or below
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample container or labeling

Understanding Your Results

Test results indicate the presence or absence of pathogenic variants in the HSPA9 gene, aiding in the diagnosis of sideroblastic anemia type 4.
Positive Result: Pathogenic variant detected, confirming genetic etiology; recommend clinical correlation and genetic counseling.
Negative Result: No pathogenic variant detected; consider other causes of anemia and further testing if clinically indicated.
Variant of Uncertain Significance (VUS): Mutation found but clinical significance unknown; may require family studies or follow-up.
⚠️ When to Consult a Doctor:

Consult a hematologist or geneticist if symptoms persist, if test results are positive, or for family planning advice.

Limitations

  • ⚠May not detect all types of HSPA9 gene mutations
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not replace comprehensive clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●Potential psychological impact of genetic results on patient and family

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample storage or handling
  • ●Recent blood transfusions affecting DNA quality

Compare With Similar Tests

TestHSPA9 Gene Anemia, sideroblastic, type 4 NGS Genetic TestComplete Blood Count (CBC)Serum Ferritin TestBone Marrow Biopsy
ComparisonHSPA9 Gene Anemia, sideroblastic, type 4 NGS Genetic Test

Frequently Asked Questions

What is HSPA9 gene anemia?
HSPA9 gene anemia, or sideroblastic anemia type 4, is a rare genetic disorder caused by mutations in the HSPA9 gene, leading to impaired red blood cell production and iron overload.
What are the common symptoms of HSPA9 gene anemia?
Symptoms include fatigue, weakness, dizziness, shortness of breath, headaches, cold hands and feet, and pale skin, similar to other anemias.
How is HSPA9 gene anemia diagnosed?
Diagnosis involves clinical evaluation, blood tests like CBC and ferritin, bone marrow biopsy, and genetic testing via NGS to confirm HSPA9 mutations.
What is the cost of the NGS genetic test at DNA Labs India?
The test costs INR 20,000, with free home sample collection available across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required for this genetic test, but follow any specific instructions from your healthcare provider.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the HSPA9 gene, confirming genetic sideroblastic anemia and guiding further management.
Can this test be used for prenatal diagnosis?
Yes, with appropriate genetic counseling, it can be considered for prenatal or preconception testing in high-risk families.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is recommended before testing to discuss implications and draw a family pedigree chart.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting gene mutations, but results should be interpreted by a genetic specialist in clinical context.
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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