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ATRX Gene Alpha-Thalassemiamental Retardation Syndrome Genetic Test

Name: ATRX Gene Alpha-Thalassemiamental Retardation Syndrome Genetic Test
SKU: TEST-3982
Price: 4400 AED
Availability: InStock

4,400 د.إ

-21%

The ATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome Genetic Test is a specialized diagnostic tool used to detect mutations in the ATRX gene, which can lead to Alpha-Thalassemia/Mental Retardation Syndrome (ATR-X). This condition is characterized by a combination of alpha-thalassemia, a disorder affecting the production of hemoglobin, and intellectual disability. Other features may include distinctive facial features, skeletal abnormalities, and urogenital anomalies.

Performed at DNA Labs UAE, this genetic test involves analyzing the patient’s DNA to identify mutations in the ATRX gene, which plays a crucial role in chromatin remodeling and is vital for normal development. The test is essential for accurate diagnosis, allowing for appropriate management and care of affected individuals. It also provides valuable information for family planning and genetic counseling for families with a history of the syndrome.

The cost of the ATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity of the test and the insights it offers, it represents a significant step forward in the genetic diagnosis and management of this rare but impactful condition.

Description

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.