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.