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TMEM237 Gene Joubert Syndrome Type 14 Genetic Test

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

-21%

The TMEM237 Gene Joubert Syndrome Type 14 Genetic Test is a specialized diagnostic procedure aimed at detecting mutations in the TMEM237 gene, which is associated with Joubert Syndrome Type 14. This condition is a rare genetic disorder characterized by the malformation of the cerebellum and brain stem, leading to a range of developmental delays, motor abnormalities, and often, respiratory difficulties and abnormal eye movements.

Conducted at DNA Labs UAE, this test is crucial for early diagnosis and intervention, helping to tailor specific therapies and support for affected individuals and their families. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed for the presence of mutations in the TMEM237 gene.

The cost of the TMEM237 Gene Joubert Syndrome Type 14 Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity and the specialized nature of this genetic test, the price reflects the extensive analysis and expertise required to accurately identify mutations in the TMEM237 gene and provide a conclusive diagnosis. Early detection through this test can significantly impact the management and quality of life for individuals with Joubert Syndrome Type 14, making it a valuable investment for affected families.

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TMEM237 Gene Joubert syndrome type 14 Genetic Test

Test Details

The TMEM237 gene is associated with Joubert syndrome type 14, a rare genetic disorder characterized by neurological abnormalities. Joubert syndrome affects the development of the brain, particularly the cerebellum. Symptoms of Joubert syndrome include abnormal breathing patterns, poor muscle coordination, intellectual disability, and kidney abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of Joubert syndrome type 14, NGS genetic testing can identify mutations or variations in the TMEM237 gene that may be responsible for the disorder.

This testing can help confirm a diagnosis, provide information about the specific genetic cause of the condition, and assist in family planning and genetic counseling.

It is important to note that genetic testing for Joubert syndrome type 14 may not be available in all healthcare settings. The decision to undergo testing should be made in consultation with a healthcare professional or genetic counselor.

Test Name: TMEM237 Gene Joubert syndrome type 14 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

Neurological Disorders

Doctor

Neurologist

Test Department

Genetics

Pre Test Information

Clinical History of Patient who is going for TMEM237 Gene Joubert syndrome type 14 NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM237 Gene Joubert syndrome type 14

Test Name TMEM237 Gene Joubert syndrome type 14 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 TMEM237 Gene Joubert syndrome type 14 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM237 Gene Joubert syndrome type 14
Test Details

The TMEM237 gene is associated with Joubert syndrome type 14, which is a rare genetic disorder characterized by neurological abnormalities. Joubert syndrome is a group of disorders that affect the development of the brain, particularly the cerebellum. Individuals with Joubert syndrome may have symptoms such as abnormal breathing patterns, poor muscle coordination, intellectual disability, and kidney abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of Joubert syndrome type 14, NGS genetic testing can be used to identify mutations or variations in the TMEM237 gene that may be responsible for the disorder. This testing can help confirm a diagnosis, provide information about the specific genetic cause of the condition, and assist in family planning and genetic counseling.

It is important to note that genetic testing for Joubert syndrome type 14 may not be available in all healthcare settings, and the decision to undergo testing should be made in consultation with a healthcare professional or genetic counselor.