ATRX Gene Alpha-thalassemiamental retardation syndrome Genetic Test
Components: ATRX Gene Alpha-thalassemiamental retardation 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: Dysmorphology
Doctor: Pediatrics
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic DNA Test gene ATRX
Test Details: The ATRX gene is involved in the regulation of gene expression and chromatin remodeling. Mutations in this gene can lead to a rare genetic disorder called ATRX syndrome, also known as alpha-thalassemia/mental retardation syndrome (ATR-X). ATR-X syndrome is an X-linked disorder that primarily affects males. It is characterized by a range of symptoms, including intellectual disability (formerly referred to as mental retardation), developmental delays, characteristic facial features, genital abnormalities, and mild to moderate anemia due to alpha-thalassemia. NGS (Next-Generation Sequencing) genetic testing can be used to detect mutations in the ATRX gene. This type of genetic testing allows for the simultaneous analysis of multiple genes, including the ATRX gene, in a single test. NGS can identify small genetic changes, such as point mutations or small insertions/deletions, as well as larger structural variations in the gene. Genetic testing for ATR-X syndrome can help confirm a clinical diagnosis and provide information about the specific genetic mutation present in an individual. This information can be useful for genetic counseling, family planning, and understanding the prognosis and potential complications associated with the condition. It is important to note that genetic testing should be performed and interpreted by a qualified healthcare professional, such as a geneticist or genetic counselor, who can provide appropriate counseling and support.
| Test Name | ATRX Gene Alpha-thalassemiamental retardation 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 | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic DNA Test gene ATRX |
| Test Details |
The ATRX gene is involved in the regulation of gene expression and chromatin remodeling. Mutations in this gene can lead to a rare genetic disorder called ATRX syndrome, also known as alpha-thalassemia/mental retardation syndrome (ATR-X). ATR-X syndrome is an X-linked disorder that primarily affects males. It is characterized by a range of symptoms, including intellectual disability (formerly referred to as mental retardation), developmental delays, characteristic facial features, genital abnormalities, and mild to moderate anemia due to alpha-thalassemia. NGS (Next-Generation Sequencing) genetic testing can be used to detect mutations in the ATRX gene. This type of genetic testing allows for the simultaneous analysis of multiple genes, including the ATRX gene, in a single test. NGS can identify small genetic changes, such as point mutations or small insertions/deletions, as well as larger structural variations in the gene. Genetic testing for ATR-X syndrome can help confirm a clinical diagnosis and provide information about the specific genetic mutation present in an individual. This information can be useful for genetic counseling, family planning, and understanding the prognosis and potential complications associated with the condition. It is important to note that genetic testing should be performed and interpreted by a qualified healthcare professional, such as a geneticist or genetic counselor, who can provide appropriate counseling and support. |
