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TMEM67 Gene COACH Syndrome Genetic Test

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

-21%

The TMEM67 gene plays a crucial role in the proper development and function of various body systems. Mutations in this gene are associated with COACH syndrome, a rare genetic disorder characterized by a spectrum of clinical features including cerebellar vermis hypoplasia, oligophrenia (developmental delay), ataxia, coloboma, and hepatic fibrosis. Early diagnosis and intervention are crucial for managing the symptoms and improving the quality of life for affected individuals.

To assist in the diagnosis of COACH syndrome, DNA Labs UAE offers a genetic test specifically targeting the TMEM67 gene. This test is designed to detect mutations in the TMEM67 gene that are linked to the development of COACH syndrome. It is a vital tool for families with a history of the syndrome or for individuals presenting with symptoms suggestive of the condition.

The cost of the TMEM67 gene COACH syndrome genetic test at DNA Labs UAE is 4400 AED. The test involves a simple sample collection process, after which the sample is analyzed in the laboratory for the presence of specific genetic mutations in the TMEM67 gene. Results from this test can provide valuable information for the diagnosis, management, and genetic counseling of affected individuals and their families.

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  • This test is not intended for medical diagnosis or treatment
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TMEM67 Gene COACH Syndrome Genetic Test

COACH syndrome is a rare genetic disorder associated with the TMEM67 gene. This syndrome is characterized by cerebellar vermis hypoplasia, oligophrenia (intellectual disability), ataxia (lack of muscle coordination), coloboma (a congenital defect of the eye), and hepatic fibrosis (scarring of the liver).

Test Components

  • Test Name: TMEM67 Gene COACH 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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the TMEM67 Gene COACH syndrome NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with TMEM67 Gene COACH syndrome.

Test Details

NGS (next-generation sequencing) genetic testing is a type of genetic test that utilizes advanced sequencing technologies to analyze multiple genes simultaneously. In the case of COACH syndrome, NGS can identify mutations in the TMEM67 gene associated with the disorder. This test is beneficial for individuals displaying symptoms consistent with COACH syndrome, as well as family members who may be at risk of inheriting the condition.

Genetic testing for COACH syndrome provides crucial information about an individual’s risk of developing the disorder, guiding medical management and treatment decisions. It also offers valuable insights for family planning and genetic counseling.

Test Name TMEM67 Gene COACH 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 TMEM67 Gene COACH syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM67 Gene COACH syndrome
Test Details

The TMEM67 gene is associated with a rare genetic disorder called COACH syndrome. This syndrome is characterized by cerebellar vermis hypoplasia, oligophrenia (intellectual disability), ataxia (lack of muscle coordination), coloboma (a congenital defect of the eye), and hepatic fibrosis (scarring of the liver).

NGS (next-generation sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. NGS can be used to identify mutations in the TMEM67 gene that are associated with COACH syndrome. This test is useful for individuals who have symptoms consistent with COACH syndrome, as well as for family members who may be at risk of inheriting the condition.

Genetic testing for COACH syndrome can provide important information about an individual’s risk of developing the disorder and can help guide medical management and treatment decisions. It can also provide valuable information for family planning and genetic counseling.