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DNA Labs India

RPS24 Gene Diamond-blackfan anemia type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RPS24 Gene Diamond-blackfan anemia type 3 NGS Genetic Test

Short Name: RPS24 DBA Type 3 NGS Test

Also known as: DBA Type 3 Genetic Test, RPS24 Mutation Analysis, Diamond-Blackfan Anemia Gene Test

RPS24 Gene Diamond-blackfan anemia type 3 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. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All ages, typically pediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify pathogenic mutations in the RPS24 gene responsible for Diamond-Blackfan Anemia Type 3, enabling accurate diagnosis, personalized treatment, and genetic counseling for affected individuals and their families.

Test Code
2670
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or a drop of blood is collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications and draw a pedigree chart.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Wait for report delivery in 3-4 weeks; follow up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the RPS24 gene responsible for Diamond-Blackfan Anemia Type 3, enabling accurate diagnosis, personalized treatment, and genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label the sample correctly
  • Transport to lab within specified stability period

Doctor's Notes

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

"This test is crucial for early diagnosis and management of Diamond-Blackfan Anemia, helping to guide treatment and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect container or labeling
  • Sample older than stability period

Understanding Your Results

Results indicate whether pathogenic mutations in the RPS24 gene are detected, which are associated with Diamond-Blackfan Anemia Type 3.
📊

Pathogenic variant detected

Confirms diagnosis of DBA type 3; genetic counseling recommended

📊

No pathogenic variant detected

DBA type 3 unlikely, but clinical correlation needed; consider other genetic tests

📊

Variant of uncertain significance

Further testing or family studies may be required

⚠️ When to Consult a Doctor:

Consult a hematologist or genetic specialist if symptoms of anemia persist, family history of DBA is present, or for guidance on test results and treatment options.

Limitations

  • May not detect all types of mutations in the RPS24 gene
  • Requires interpretation by a genetic specialist
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection
  • Psychological impact of genetic results

Interfering Factors

  • Contaminated or degraded DNA sample
  • Insufficient sample volume
  • Recent blood transfusion affecting DNA analysis

Compare With Similar Tests

TestRPS24 Gene Diamond-blackfan anemia type 3 NGS Genetic TestComplete Blood Count (CBC)Bone Marrow BiopsyOther DBA Gene Panels
ComparisonRPS24 Gene Diamond-blackfan anemia type 3 NGS Genetic Test

Frequently Asked Questions

What is Diamond-Blackfan Anemia Type 3?
It is a rare genetic disorder caused by mutations in the RPS24 gene, leading to failure of bone marrow to produce red blood cells.
Who should get this genetic test?
Individuals with symptoms of severe anemia in infancy, family history of DBA, or those requiring genetic confirmation for diagnosis.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample or extracted DNA.
What is the cost of the test?
The cost is INR 20000, which includes sample collection, analysis, and report.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Results indicate if pathogenic mutations in the RPS24 gene are detected, confirming DBA type 3.
Are there any risks to the test?
The test involves minimal risks from blood draw, such as bruising, but genetic results may have psychological implications.
Can this test be used for family planning?
Yes, it provides valuable information for genetic counseling and family planning.
What if the test shows no mutation?
It may indicate DBA type 3 is unlikely, but clinical correlation and other tests may be needed.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer for details.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be interpreted by a genetic specialist.
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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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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