TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic Test
Short Name: TSR2 DBA Type 14 NGS Test
Also known as: DBA Type 14, TSR2-related Diamond-Blackfan Anemia, Diamond-Blackfan Anemia with Mandibulofacial Dysostosis
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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to diagnose Diamond-Blackfan Anemia Type 14 caused by TSR2 gene mutations, confirm the genetic basis of symptoms, guide clinical management, and facilitate genetic counseling for affected individuals and their families.
- Test Code
- 2725
- 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)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or FTA Card
Laboratory Analysis
A blood sample will be drawn via venipuncture or a drop of blood collected on an FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Diamond-Blackfan Anemia Type 14 caused by TSR2 gene mutations, confirm the genetic basis of symptoms, guide clinical management, and facilitate genetic counseling for affected individuals and their families.
How to Prepare
- Ensure sample is collected in a sterile environment
- Label the sample correctly with patient details
- Transport the sample at ambient room temperature as specified
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is essential for confirming Diamond-Blackfan Anemia Type 14 caused by TSR2 gene mutations, aiding in personalized treatment and genetic counseling for affected families."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Contaminated samples
Understanding Your Results
Positive for TSR2 mutation
Confirms diagnosis of DBA Type 14; recommend genetic counseling and targeted treatment.
Negative for TSR2 mutation
TSR2-related DBA unlikely; consider other genetic tests or clinical evaluation.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor if symptoms of anemia, facial abnormalities, or developmental delays persist, or if family history suggests genetic disorders. Genetic counseling is advised for all positive results.
Limitations
- ⚠May not detect all types of TSR2 gene mutations
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not rule out other genetic causes of Diamond-Blackfan Anemia
- ⚠Genetic counseling is recommended for comprehensive understanding
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling available
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample storage or handling
- ●Recent blood transfusions may affect DNA analysis
Frequently Asked Questions
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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.
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