RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome Genetic Test
Welcome to DNA Labs UAE, where we offer the RBM8A Gene Thrombocytopenia-Absent-Radius-Syndrome Genetic Test. This test helps diagnose a rare genetic disorder characterized by low platelet levels and the absence or underdevelopment of the radius bone in the forearm.
Test Details
The RBM8A gene thrombocytopenia-absent-radius syndrome is caused by mutations in the RBM8A gene. Our Next-Generation Sequencing (NGS) technology allows for the rapid and cost-effective analysis of multiple genes, making it an ideal tool for diagnosing rare genetic disorders like this syndrome.
Test Components and Price
The RBM8A Gene Thrombocytopenia-Absent-Radius-Syndrome Genetic Test costs AED 4400.0. It requires a blood sample, extracted DNA, or one drop of blood on an FTA card as a sample condition.
Report Delivery
Once the sample is received, the report will be delivered within 3 to 4 weeks.
Method
We use NGS technology for this genetic test, which allows for the simultaneous analysis of multiple genes.
Test Type and Doctor
This test falls under the categories of Hepatology, Nephrology, and Endocrinology Disorders. It is recommended to consult a General Physician for this test.
Test Department
The RBM8A Gene Thrombocytopenia-Absent-Radius-Syndrome Genetic Test is conducted in our Genetics department.
Pre Test Information
Prior to the test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by the RBM8A Gene Thrombocytopenia-Absent-Radius-Syndrome.
Benefits of Genetic Testing
Genetic testing for RBM8A Gene Thrombocytopenia-Absent-Radius-Syndrome can provide a definitive diagnosis, allowing for appropriate medical management and treatment planning. It can also help identify family members at risk of inheriting the syndrome, enabling genetic counseling and informed family planning decisions.
Important Note
Genetic testing for RBM8A Gene Thrombocytopenia-Absent-Radius-Syndrome should always be done under the guidance of a healthcare professional or genetic counselor. They can determine if the test is appropriate, explain the potential benefits and limitations, and provide support throughout the testing process.
| Test Name | RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Hepatology Nephrology Endocrinology Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
RBM8A gene thrombocytopenia-absent-radius syndrome is a rare genetic disorder characterized by low levels of platelets in the blood (thrombocytopenia) and the absence or underdevelopment of the radius bone in the forearm (radial aplasia or hypoplasia). This syndrome is caused by mutations in the RBM8A gene. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. It allows for the rapid and cost-effective analysis of a large number of genes, making it a useful tool for diagnosing rare genetic disorders like RBM8A gene thrombocytopenia-absent-radius syndrome. NGS genetic testing for RBM8A gene thrombocytopenia-absent-radius syndrome involves obtaining a DNA sample from the patient, typically through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variants in the RBM8A gene. The results of the test can help confirm a diagnosis of the syndrome and provide information about the specific genetic mutation involved. Genetic testing for RBM8A gene thrombocytopenia-absent-radius syndrome can be beneficial for individuals and their families in several ways. It can provide a definitive diagnosis, allowing for appropriate medical management and treatment planning. It can also help identify other family members who may be at risk of inheriting the syndrome, allowing for genetic counseling and informed family planning decisions. It is important to note that genetic testing for RBM8A gene thrombocytopenia-absent-radius syndrome should be done under the guidance of a healthcare professional or genetic counselor. They can help determine if the test is appropriate, explain the potential benefits and limitations, and provide support and guidance throughout the testing process. |
