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RPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic Test

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RPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic Test

Short Name: RPS7 Gene DBA Type 8 NGS Test

Also known as: RPS7 Gene Diamond-Blackfan Anemia Type 8 Test, DBA Type 8 Genetic Test, RPS7 Mutation Analysis

RPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

To diagnose Diamond-Blackfan Anemia Type 8 by detecting mutations in the RPS7 gene using next-generation sequencing, aiding in clinical management and genetic counseling.

Test Code
5581
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree chart during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss test implications and provide family history.
2
During the Test:Sample collection via blood draw and analysis using NGS technology.
3
After the Test:Review results with a healthcare provider and genetic counselor for management planning.

About This Test

Who Should Get This Test

To diagnose Diamond-Blackfan Anemia Type 8 by detecting mutations in the RPS7 gene using next-generation sequencing, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes
  • Label samples correctly
  • Transport samples at ambient temperature

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, especially in families with a history of the disorder, aiding in genetic counseling and treatment planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples should be processed within 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the RPS7 gene associated with Diamond-Blackfan Anemia Type 8. Positive results confirm genetic etiology, while negative results may require further testing.
📊

Positive

Pathogenic mutation detected in RPS7 gene, confirming diagnosis of DBA Type 8.

📊

Negative

No pathogenic variants detected; clinical correlation and additional tests may be needed.

📊

Variant of Uncertain Significance

Genetic variant found but significance unclear; genetic counseling recommended.

⚠️ When to Consult a Doctor:

If symptoms of anemia persist, if there is a family history of Diamond-Blackfan Anemia, or if genetic test results are positive or uncertain.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires clinical correlation for diagnosis
  • ⚠Genetic counseling recommended for result interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Genetic privacy and psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestRPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic TestRPL5 Gene DBA TestRPL11 Gene DBA TestRPS19 Gene DBA TestComplete Blood Count
ComparisonRPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic Test

Frequently Asked Questions

What is Diamond-Blackfan Anemia Type 8?
Diamond-Blackfan Anemia Type 8 is a rare genetic disorder caused by mutations in the RPS7 gene, leading to impaired red blood cell production and anemia.
What causes DBA Type 8?
It is caused by mutations in the RPS7 gene, which disrupts the production of ribosomal protein S7 essential for red blood cell formation.
What are the symptoms of DBA Type 8?
Symptoms include pale skin, fatigue, irritability, shortness of breath, rapid heartbeat, delayed growth, and physical abnormalities like small head or low-set ears.
How is the RPS7 Gene Test performed?
The test uses next-generation sequencing (NGS) to analyze the RPS7 gene from a blood or DNA sample for mutations.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally not painful.
What does a positive result mean?
A positive result indicates a mutation in the RPS7 gene, confirming a diagnosis of Diamond-Blackfan Anemia Type 8.
What does a negative result mean?
A negative result means no pathogenic mutations were detected, but clinical evaluation may still be needed if symptoms persist.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications, results, and family planning.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection, analysis, and report generation.
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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