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RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test

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RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test

Also known as: DBA Type 15, RPS28-related Diamond Blackfan anemia

RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis 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.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To identify mutations in the RPS28 gene for diagnosis of Diamond Blackfan anemia type 15 with mandibulofacial dysostosis, aiding in clinical management and genetic counseling.

Test Code
2724
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 special preparation required. Provide clinical history and undergo genetic counseling.

Method: Blood draw or Saliva collection

Step 2

Laboratory Analysis

Blood draw or saliva collection as per standard procedure by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site if blood drawn. Store samples appropriately for transport.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
2
During the Test:Sample processed for Next Generation Sequencing (NGS) to analyze the RPS28 gene.
3
After the Test:Report generated and delivered via online portal, email, or WhatsApp within 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the RPS28 gene for diagnosis of Diamond Blackfan anemia type 15 with mandibulofacial dysostosis, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly

Doctor's Notes

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

"This test is crucial for diagnosing rare genetic disorders like DBA Type 15, enabling early intervention and management for affected individuals."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or Saliva collection

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the RPS28 gene associated with Diamond Blackfan anemia type 15.
📊

Pathogenic variant detected

Confirms diagnosis of DBA Type 15 with mandibulofacial dysostosis. Genetic counseling recommended.

📊

No pathogenic variant detected

Mutation not found; clinical correlation advised for further evaluation.

⚠️ When to Consult a Doctor:

If symptoms of anemia, facial abnormalities, or growth delays are present, consult a geneticist or pediatrician for evaluation and possible testing.

Limitations

  • ⚠Only detects mutations in RPS28 gene
  • ⚠May not identify all genetic causes of Diamond Blackfan anemia

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant risks from saliva collection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestRPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic TestRPS19 Gene DBA TestComprehensive DBA Panel
ComparisonRPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test

Frequently Asked Questions

What is RPS28 Gene Diamond Blackfan anemia type 15?
It is a rare subtype of Diamond Blackfan anemia caused by mutations in the RPS28 gene, often associated with mandibulofacial dysostosis affecting facial and jaw development.
What are the common symptoms of this disorder?
Symptoms include pale skin, fatigue, short stature, low birth weight, delayed growth, cleft palate, hand and foot abnormalities, heart defects, and hearing loss.
How is the test performed?
The test uses Next Generation Sequencing (NGS) to analyze the RPS28 gene from a blood or saliva sample.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is needed.
What is the cost of the RPS28 Gene NGS Genetic Test?
The test costs INR 20000 at DNA Labs India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the RPS28 gene, confirming diagnosis of DBA Type 15 with mandibulofacial dysostosis.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; consult a geneticist for prenatal testing options.
What are the risks associated with the test?
Risks are minimal, such as bruising from blood draw or slight discomfort during sample collection.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting gene mutations, but results should be interpreted in clinical context.
Where can I get this test done?
DNA Labs India provides this test nationwide with home collection in cities like Mumbai, Delhi, Bangalore, and more.
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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