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RPS6KA3 Gene Coffin-Lowry Syndrome Genetic Test

Name: RPS6KA3 Gene Coffin-Lowry Syndrome Genetic Test
SKU: TEST-1207
Price: 4400 AED
Availability: InStock

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

-21%

The RPS6KA3 gene Coffin-Lowry Syndrome genetic test is a specialized diagnostic procedure aimed at identifying mutations in the RPS6KA3 gene, which are responsible for causing Coffin-Lowry Syndrome (CLS). CLS is a rare genetic disorder that affects intellectual development and physical growth, with symptoms including cognitive impairments, skeletal anomalies, and distinctive facial features. This test is crucial for families seeking a definitive diagnosis of CLS, enabling informed decisions about management and care.

Performed at DNA Labs UAE, a leading facility in genetic testing, the test involves collecting a DNA sample, usually through a blood draw or cheek swab, and analyzing it for specific genetic alterations associated with the syndrome. The cost of the test is set at 4400 AED, reflecting the specialized nature of the analysis and the expertise required to accurately interpret the results.

For families with a history of Coffin-Lowry Syndrome or individuals showing symptoms consistent with the disorder, this genetic test provides a critical tool for diagnosis, facilitating early intervention and support strategies tailored to the unique needs of each patient.

Description

RPS6KA3 Gene Coffin-Lowry syndrome Genetic Test

Test Name: RPS6KA3 Gene Coffin-Lowry syndrome Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

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: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPS6KA3 Gene Coffin-Lowry syndrome.

Test Details: The RPS6KA3 gene is associated with Coffin-Lowry syndrome, a rare genetic disorder characterized by intellectual disability, facial abnormalities, and skeletal abnormalities. NGS (next-generation sequencing) genetic testing can be used to analyze the RPS6KA3 gene and detect any genetic mutations that may be responsible for Coffin-Lowry syndrome. This type of genetic testing is highly accurate and can provide a definitive diagnosis for individuals suspected of having the syndrome. Early diagnosis and management of Coffin-Lowry syndrome can improve outcomes and quality of life for affected individuals and their families. Genetic counseling may also be recommended for families with a history of Coffin-Lowry syndrome or individuals who have been diagnosed with the condition.

Test Name	RPS6KA3 Gene Coffin-Lowry syndrome 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 RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RPS6KA3 Gene Coffin-Lowry syndrome
Test Details	The RPS6KA3 gene is associated with Coffin-Lowry syndrome, a rare genetic disorder characterized by intellectual disability, facial abnormalities, and skeletal abnormalities. NGS (next-generation sequencing) genetic testing can be used to analyze the RPS6KA3 gene and detect any genetic mutations that may be responsible for Coffin-Lowry syndrome. This type of genetic testing is highly accurate and can provide a definitive diagnosis for individuals suspected of having the syndrome. Early diagnosis and management of Coffin-Lowry syndrome can improve outcomes and quality of life for affected individuals and their families. Genetic counseling may also be recommended for families with a history of Coffin-Lowry syndrome or individuals who have been diagnosed with the condition.