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TBXAS1 Gene Ghosal hematodiaphyseal syndrome Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

Ghosal Hematodiaphyseal Syndrome (GHDS) is a rare genetic disorder characterized by bone marrow fibrosis and abnormal bone development, leading to a variety of skeletal abnormalities. This condition is caused by mutations in the TBXAS1 gene, which plays a crucial role in bone and blood vessel development. Individuals with GHDS may experience symptoms such as anemia, bone pain, and increased bone density, particularly in the diaphyses of long bones.

To diagnose GHDS, genetic testing for mutations in the TBXAS1 gene is essential. DNA Labs UAE offers a specific genetic test targeting the TBXAS1 gene to confirm the diagnosis of Ghosal Hematodiaphyseal Syndrome. The test involves analyzing the patient’s DNA to identify mutations in the TBXAS1 gene that are known to cause the syndrome.

The cost of the TBXAS1 gene genetic test at DNA Labs UAE is 4400 AED. This test is a critical step in the diagnostic process for individuals suspected of having GHDS, as a confirmed genetic diagnosis can help in managing the condition effectively. It involves collecting a DNA sample, typically through a blood draw, which is then analyzed in the laboratory for the presence of specific mutations associated with the syndrome.

Early diagnosis through genetic testing can facilitate timely intervention and management strategies, potentially improving the quality of life for individuals with Ghosal Hematodiaphyseal Syndrome.

Description

TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome Genetic Test

Components: TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome Genetic Test

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: Osteology Dermatology Immunology Disorders

Doctor: Dermatologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome NGS Genetic DNA Test gene TBXAS1

Test Details: The TBXAS1 gene is responsible for providing instructions to produce an enzyme called thromboxane synthase. This enzyme plays a crucial role in the production of thromboxane A2, which is involved in blood clotting and the constriction of blood vessels. Ghosal hematodiaphyseal syndrome is a rare genetic disorder characterized by abnormalities in the bones, bone marrow, and blood cells. Individuals with this syndrome may have thickening of the bones, increased bone density, and abnormal bone growth. They may also have low platelet counts, anemia, and enlarged spleen. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of Ghosal hematodiaphyseal syndrome, NGS genetic testing can be used to identify mutations or variations in the TBXAS1 gene that may be responsible for causing the syndrome. By identifying the specific genetic changes associated with Ghosal hematodiaphyseal syndrome, NGS genetic testing can help in confirming a diagnosis, providing information about the prognosis and potential complications, and guiding treatment options and management strategies.

Test Name	TBXAS1 Gene Ghosal hematodiaphyseal 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	Osteology Dermatology Immunology Disorders
Doctor	Dermatologist
Test Department:	Genetics
Pre Test Information	Clinical History of Patient who is going for TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic DNA Test gene TBXAS1
Test Details	The TBXAS1 gene is responsible for providing instructions to produce an enzyme called thromboxane synthase. This enzyme plays a crucial role in the production of thromboxane A2, which is involved in blood clotting and the constriction of blood vessels. Ghosal hematodiaphyseal syndrome is a rare genetic disorder characterized by abnormalities in the bones, bone marrow, and blood cells. Individuals with this syndrome may have thickening of the bones, increased bone density, and abnormal bone growth. They may also have low platelet counts, anemia, and enlarged spleen. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of Ghosal hematodiaphyseal syndrome, NGS genetic testing can be used to identify mutations or variations in the TBXAS1 gene that may be responsible for causing the syndrome. By identifying the specific genetic changes associated with Ghosal hematodiaphyseal syndrome, NGS genetic testing can help in confirming a diagnosis, providing information about the prognosis and potential complications, and guiding treatment options and management strategies.