Short Description

NGS genetic DNA test detecets for variant and mutation detection in RBM8A gene for Thromocytopenia-Absent-Radius-Syndrome

PreTest Information

Clinical History of Patient who is going for RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome NGS Genetic DNA Test gene RBM8A

Detail Description

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

Thromocytopenia-absent-radius syndrome (TAR syndrome) is a rare genetic disorder characterized by low platelet counts and the absence of the radius bone in the forearm. The RBM8A gene has been identified as the cause of TAR syndrome in most cases. DNA Labs India offers an NGS Genetic DNA test for RBM8A gene mutations associated with TAR syndrome at a cost of INR 20,000.

Symptoms of TAR Syndrome

The most common symptoms of TAR syndrome are low platelet counts and the absence of the radius bone in the forearm. Other symptoms may include:

• Bruising easily
• Nosebleeds
• Bleeding gums
• Heavy menstrual periods
• Slow healing after injury or surgery
• Delayed motor development

Diagnosis of TAR Syndrome

TAR syndrome is usually diagnosed shortly after birth when the absence of the radius bone is noted. Blood tests can confirm low platelet counts, and genetic testing can identify RBM8A gene mutations associated with TAR syndrome.

NGS Genetic DNA Test for RBM8A Gene Mutations

DNA Labs India offers an NGS Genetic DNA test for RBM8A gene mutations associated with TAR syndrome. This test uses next-generation sequencing (NGS) technology to analyze the entire RBM8A gene for mutations. The test requires a small blood or saliva sample and has a turnaround time of approximately 2-4 weeks.

Cost of the Test

The cost of the RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome NGS Genetic DNA test at DNA Labs India is INR 20,000.

Conclusion

If you or a loved one have symptoms of TAR syndrome or have a family history of the disorder, it may be beneficial to undergo genetic testing. The RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome NGS Genetic DNA test offered by DNA Labs India can identify RBM8A gene mutations associated with TAR syndrome and provide valuable information for diagnosis and treatment. Contact DNA Labs India today to schedule a test.