TMEM240 Gene Spinocerebellar ataxia type 21 autosomal dominant Genetic Test
Welcome to DNA Labs UAE, a leading genetic laboratory offering a wide range of genetic tests. Today, we will discuss the TMEM240 Gene Spinocerebellar ataxia type 21 autosomal dominant Genetic Test.
Test Details
The TMEM240 Gene Spinocerebellar ataxia type 21 autosomal dominant Genetic Test is a comprehensive test designed to detect mutations in the TMEM240 gene. This gene is associated with Spinocerebellar ataxia type 21 (SCA21), a rare genetic disorder characterized by progressive loss of coordination and balance.
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
Prior to undergoing the TMEM240 Gene Spinocerebellar ataxia type 21 autosomal dominant Genetic 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 by SCA21.
Symptoms and Diagnosis
SCA21 is characterized by progressive ataxia, or loss of coordination and balance. It is an autosomal dominant condition, meaning that individuals with one copy of the mutated gene will develop the disease. Symptoms of SCA21 include unsteady gait, difficulty with speech and swallowing, and tremors.
NGS (Next-Generation Sequencing) genetic testing is used to analyze multiple genes simultaneously. In the case of SCA21, NGS can identify mutations in the TMEM240 gene that may be causing the disease. This type of testing provides a definitive diagnosis and helps guide treatment and management options.
Important Note
It is crucial to undergo genetic testing for SCA21 under the guidance of a healthcare professional or genetic counselor. They can interpret the test results and provide appropriate counseling and support for individuals and families affected by this condition.
Test Name | TMEM240 Gene Spinocerebellar ataxia type 21 autosomal dominant 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 TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant |
Test Details |
Spinocerebellar ataxia type 21 (SCA21) is a rare genetic disorder characterized by progressive ataxia, or loss of coordination and balance. It is an autosomal dominant condition, meaning that individuals with one copy of the mutated gene will develop the disease. The TMEM240 gene is associated with SCA21. Mutations in this gene can disrupt the normal functioning of the cerebellum, a part of the brain that controls movement and coordination. These mutations can lead to the symptoms of SCA21, including unsteady gait, difficulty with speech and swallowing, and tremors. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously. In the case of SCA21, NGS can be used to identify mutations in the TMEM240 gene that may be causing the disease. This type of testing can provide a definitive diagnosis for individuals with suspected SCA21 and can help guide treatment and management options. It is important to note that genetic testing for SCA21 should be done under the guidance of a healthcare professional or genetic counselor. They can help interpret the results and provide appropriate counseling and support for individuals and families affected by this condition. |