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RPS29 Gene Diamond-Blackfan anemia type 13 NGS Genetic Test

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RPS29 Gene Diamond-Blackfan anemia type 13 NGS Genetic Test

Short Name: RPS29 DBA Type 13 NGS Test

Also known as: DBA Type 13 Genetic Test, RPS29 Mutation Analysis, Diamond-Blackfan Anemia Type 13 NGS Test

RPS29 Gene Diamond-Blackfan anemia type 13 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the RPS29 gene that cause Diamond-Blackfan Anemia Type 13, aiding in diagnosis, treatment planning, and genetic counseling.

Test Code
2679
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

A genetic counseling session is recommended to discuss the test and its implications.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

The sample will be labeled and sent to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider or geneticist to discuss the need for testing and provide informed consent.
2
During the Test:The test involves a simple blood draw, which takes only a few minutes.
3
After the Test:Results will be available in 3 to 4 weeks; schedule a follow-up to discuss findings with your doctor.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the RPS29 gene that cause Diamond-Blackfan Anemia Type 13, aiding in diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Ensure the sample is properly labeled with patient details
  • Use aseptic techniques to prevent contamination
  • Transport the sample at ambient temperature as specified

Doctor's Notes

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

"Genetic testing for Diamond-Blackfan Anemia is essential for accurate diagnosis and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood samples are stable for 48 hours at room temperature
Extracted DNA can be stored at -20°C for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or unlabeled samples

Understanding Your Results

The results of the RPS29 gene test indicate whether pathogenic mutations associated with Diamond-Blackfan Anemia Type 13 are present.
Positive Result: Pathogenic variant detected in the RPS29 gene, confirming diagnosis of DBA Type 13.
Negative Result: No pathogenic variants detected; however, clinical symptoms may still require further investigation.
Variant of Uncertain Significance (VUS): A genetic variant was found, but its clinical significance is unknown; additional testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of anemia, have a family history of DBA, or if genetic test results are positive or uncertain.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require interpretation by a geneticist
  • ⚠Not a standalone diagnostic tool; clinical correlation is necessary

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Potential emotional impact of genetic test results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection or processing
  • ●Technical errors in sequencing

Compare With Similar Tests

TestRPS29 Gene Diamond-Blackfan anemia type 13 NGS Genetic TestRPS19 Gene DBA Type 1 NGS TestRPL5 Gene DBA Type 6 NGS TestRPL11 Gene DBA Type 7 NGS Test
ComparisonRPS29 Gene Diamond-Blackfan anemia type 13 NGS Genetic Test

Frequently Asked Questions

What is Diamond-Blackfan Anemia?
Diamond-Blackfan Anemia is a rare genetic disorder that affects red blood cell production, leading to anemia and related symptoms.
What is the RPS29 gene?
The RPS29 gene is one of the genes associated with Diamond-Blackfan Anemia; mutations in this gene can cause Type 13 of the disorder.
How is the RPS29 Gene DBA Type 13 NGS Genetic Test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample for mutations in the RPS29 gene.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, analysis, and reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of Diamond-Blackfan Anemia?
Common symptoms include fatigue, pallor, shortness of breath, weakness, and irritability due to anemia.
Who should consider getting this test?
Individuals with unexplained anemia, family history of DBA, or symptoms suggestive of the disorder should consider this test.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic mutation in the RPS29 gene, confirming a diagnosis of DBA Type 13.
Are there any risks associated with the test?
The test involves a standard blood draw, which has minimal risks such as bruising; emotional impact of results is also possible.
Is the test covered by insurance?
Coverage depends on your insurance policy; it is advisable to check with your provider for details.
How should I prepare for the test?
No special preparation is needed, but a genetic counseling session is recommended to understand the test and its implications.
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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