ATRX Gene Mental Retardation with Hypotonic Facies Syndrome X-linked Genetic Test
Genetic testing plays a crucial role in diagnosing and understanding various disorders and conditions. One such disorder is ATRX gene mental retardation with hypotonic facies syndrome, X-linked. DNA Labs UAE offers a comprehensive genetic test for this syndrome.
Test Details
ATRX gene mental retardation with hypotonic facies syndrome, X-linked is a genetic disorder caused by mutations in the ATRX gene. This gene is responsible for regulating the structure of chromosomes, particularly in regions called heterochromatin. Mutations in the ATRX gene can lead to changes in chromosome structure and function.
Individuals with ATRX gene mental retardation with hypotonic facies syndrome, X-linked typically exhibit intellectual disability, delayed development, and distinctive facial features such as a round face, a small chin, and a depressed nasal bridge. They may also have low muscle tone (hypotonia) and other physical abnormalities.
Our genetic test for ATRX gene mental retardation with hypotonic facies syndrome, X-linked utilizes NGS (Next-Generation Sequencing) technology. NGS genetic testing involves analyzing a person’s DNA to identify genetic variations or mutations associated with the disorder. In the case of ATRX gene mental retardation with hypotonic facies syndrome, X-linked, NGS genetic testing helps identify mutations in the ATRX gene that may be responsible for the disorder.
The test involves sequencing the entire coding region of the ATRX gene to detect any variations or mutations. This information can confirm a diagnosis of ATRX gene mental retardation with hypotonic facies syndrome, X-linked and provide insights into the specific mutation present in an individual. Such information is valuable for genetic counseling and family planning.
It is important to note that while NGS genetic testing can be helpful in diagnosing ATRX gene mental retardation with hypotonic facies syndrome, X-linked, it may not detect all possible mutations in the ATRX gene. Additionally, the presence of a mutation in the ATRX gene does not necessarily guarantee the development of the syndrome, as there can be variations in the severity and presentation of the disorder.
Test Components and Price
The ATRX gene mental retardation with hypotonic facies syndrome, X-linked genetic test is priced at 4400.0 AED.
Sample Condition
The test requires a blood sample or extracted DNA. Alternatively, one drop of blood on an FTA card can also be used.
Report Delivery
The test report will be delivered within 3 to 4 weeks.
Test Type and Department
The ATRX gene mental retardation with hypotonic facies syndrome, X-linked genetic test falls under the category of neurological disorders. It is conducted by our Genetics department.
Pre Test Information
Prior to undergoing the ATRX gene mental retardation with hypotonic facies syndrome, X-linked NGS genetic DNA test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by the syndrome.
Consulting Doctor
Our neurologist will guide you throughout the testing process and provide expert advice based on the test results.
If you have any further questions or require additional information regarding NGS genetic testing for ATRX gene mental retardation with hypotonic facies syndrome, X-linked, our healthcare professionals and genetic counselors are here to assist you.
| Test Name | ATRX Gene Mental retardation with hypotonic facies syndrome X-linked Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ATRX Gene Mental retardation with hypotonic facies syndrome, X-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATRX Gene Mental retardation with hypotonic facies syndrome, X-linked |
| Test Details | ATRX gene mental retardation with hypotonic facies syndrome, X-linked is a genetic disorder caused by mutations in the ATRX gene. This gene provides instructions for making a protein that is involved in regulating the structure of chromosomes. Mutations in the ATRX gene can lead to changes in the structure and function of chromosomes, particularly in regions called heterochromatin. Individuals with ATRX gene mental retardation with hypotonic facies syndrome, X-linked typically have intellectual disability, delayed development, and distinctive facial features including a round face, a small chin, and a depressed nasal bridge. They may also have low muscle tone (hypotonia) and other physical abnormalities. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze a person’s DNA to identify genetic variations or mutations that may be associated with a particular disorder or condition. In the case of ATRX gene mental retardation with hypotonic facies syndrome, X-linked, NGS genetic testing can be used to identify mutations in the ATRX gene that may be responsible for the disorder. NGS genetic testing involves sequencing the entire coding region of the ATRX gene to identify any variations or mutations. This can help in confirming a diagnosis of ATRX gene mental retardation with hypotonic facies syndrome, X-linked and can also provide information about the specific mutation present in an individual, which can be useful for genetic counseling and family planning. It is important to note that while NGS genetic testing can be helpful in diagnosing ATRX gene mental retardation with hypotonic facies syndrome, X-linked, it may not detect all possible mutations in the ATRX gene. Additionally, the presence of a mutation in the ATRX gene does not necessarily guarantee the development of the syndrome, as there can be variations in the severity and presentation of the disorder. A healthcare professional or genetic counselor can provide more information and guidance regarding NGS genetic testing for ATRX gene mental retardation with hypotonic facies syndrome, X-linked. |
