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RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome NGS Genetic Test

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RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome NGS Genetic Test

Short Name: TAR Syndrome NGS Test

Also known as: TAR Syndrome, Thrombocytopenia-Absent Radius Syndrome

RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome 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 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the RBM8A gene for diagnosis and management of thrombocytopenia-absent-radius (TAR) syndrome.

Test Code
2648
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with TAR syndrome.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling.
3
After the Test:Receive results and consult with a healthcare provider for next steps.

About This Test

Who Should Get This Test

To identify mutations in the RBM8A gene for diagnosis and management of thrombocytopenia-absent-radius (TAR) syndrome.

How to Prepare

  • Collect blood sample or saliva as per standard protocols.
  • Use FTA card for one drop blood if applicable.
  • Ensure proper labeling and transport to the lab.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for TAR syndrome is crucial for early diagnosis and management. Consult with a genetic counselor to understand implications for family planning and treatment options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the RBM8A gene. Consult a genetic counselor for detailed interpretation.
📊

Positive for pathogenic variant

Confirms diagnosis of TAR syndrome. Genetic counseling and management planning recommended.

📊

Negative for pathogenic variant

No mutations detected in RBM8A gene. Clinical correlation and further testing may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

If you or a family member exhibit symptoms of TAR syndrome, such as low platelet counts or absent radius bone, or have a family history of the disorder.

Risks & Considerations

  • Minimal risk associated with blood draw
  • Potential psychological impact of genetic results

Frequently Asked Questions

What is TAR syndrome?
Thrombocytopenia-absent-radius (TAR) syndrome is a rare genetic disorder characterized by low platelet counts and the absence of the radius bone in the forearm.
What causes TAR syndrome?
TAR syndrome is primarily caused by mutations in the RBM8A gene, which is identified through genetic testing.
How is TAR syndrome diagnosed?
Diagnosis involves clinical evaluation, blood tests for low platelet counts, and genetic testing to identify RBM8A gene mutations.
What is the RBM8A gene?
The RBM8A gene provides instructions for making a protein involved in RNA processing, and mutations in this gene are linked to TAR syndrome.
What does the NGS genetic test involve?
The test uses next-generation sequencing (NGS) to analyze the entire RBM8A gene for mutations from a blood or saliva sample.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What is the cost of the test?
The RBM8A Gene TAR Syndrome NGS Genetic Test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across numerous cities in India.
Who should consider this test?
Individuals with symptoms of TAR syndrome, such as low platelet counts or absent radius bone, or those with a family history of the disorder.
What are the risks of genetic testing?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact of results.
How accurate is the test?
The NGS test is highly accurate for detecting mutations in the RBM8A gene, but results should be interpreted by a genetic counselor.
What should I do after receiving the results?
Consult with a healthcare provider or genetic counselor to understand the implications and plan for management or family planning.
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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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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