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TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic Test

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TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic Test

Short Name: TSR2 Gene DBA Type 14 NGS Test

Also known as: DBA Type 14, TSR2-related Diamond-Blackfan anemia, Mandibulofacial dysostosis with anemia

TSR2 Gene Diamond-Blackfan anemia type 14 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.

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 confirm the diagnosis of Diamond-Blackfan anemia type 14 caused by TSR2 gene mutations, especially in patients with symptoms of anemia and mandibulofacial dysostosis. This test aids in genetic counseling, family planning, and personalized treatment strategies.

Test Code
2673
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

Provide clinical history and family pedigree. Genetic counseling session recommended.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop blood.

Step 3

Report Delivery

Apply pressure to puncture site. Sample sent to laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor. Provide detailed medical and family history.
2
During the Test:Sample collection procedure as per instructions.
3
After the Test:Wait for results. Genetic counseling to interpret findings.

About This Test

Who Should Get This Test

To confirm the diagnosis of Diamond-Blackfan anemia type 14 caused by TSR2 gene mutations, especially in patients with symptoms of anemia and mandibulofacial dysostosis. This test aids in genetic counseling, family planning, and personalized treatment strategies.

How to Prepare

  • Fast not required
  • Use sterile equipment
  • Label sample correctly

Doctor's Notes

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

"Early genetic testing is crucial for management of rare anemias and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TSR2 gene.
Positive result: Pathogenic variant detected, confirming diagnosis
Negative result: No pathogenic variants, but clinical correlation needed
Variant of uncertain significance: Requires further testing
⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or for genetic counseling after test results.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not for prenatal diagnosis without additional confirmation

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk
  • ●Emotional impact of results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestTSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic TestComplete Blood Count (CBC)Bone Marrow BiopsyOther DBA Gene Panels
ComparisonTSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic TestScreens for anemia but not specific for DBAAssesses blood cell production but invasiveTests multiple genes but may not include TSR2

Frequently Asked Questions

What is TSR2 Gene Diamond-Blackfan Anemia Type 14?
It is a rare genetic disorder caused by mutations in the TSR2 gene, leading to anemia and mandibulofacial dysostosis.
What are the common symptoms of this condition?
Symptoms include pale skin, fatigue, weakness, short stature, facial abnormalities, and heart defects.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the TSR2 gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available across India.
How long does it take to receive the test results?
Results are typically available in 3 to 4 weeks.
What do a positive or negative result mean?
A positive result confirms a pathogenic variant in TSR2, while a negative result may require further clinical evaluation.
Is the test covered by insurance or government schemes?
Coverage varies; it is recommended to check with your insurer or scheme provider.
Can this test be used for prenatal diagnosis?
It is not typically used for prenatal diagnosis without additional confirmation methods.
What is the accuracy of the NGS Genetic Test?
The test has high accuracy for detecting mutations in the TSR2 gene, but genetic counseling is advised for interpretation.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but emotional impact of results should be considered.
How should I prepare for the test?
No fasting is required; provide clinical history and consider genetic counseling before testing.
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.

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✓ 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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