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TMEM138 Gene Joubert Syndrome Type 16 Genetic Test

4,400 د.إ

-21%

The TMEM138 Gene Joubert Syndrome Type 16 Genetic Test is a specialized diagnostic assessment offered by DNA Labs UAE, designed to identify mutations in the TMEM138 gene, which are linked to Joubert Syndrome Type 16. This rare genetic disorder is part of a group of conditions known as ciliopathies, characterized by abnormalities in the structure and function of cilia, leading to a range of developmental issues, particularly affecting the cerebellum, an area of the brain that controls balance and coordination.

Joubert Syndrome manifests through a variety of symptoms, including developmental delays, coordination problems, abnormal breathing patterns, and distinctive facial features. The TMEM138 gene plays a critical role in the development and function of cilia; thus, mutations in this gene can disrupt normal cellular processes, leading to the symptoms observed in affected individuals.

The genetic test provided by DNA Labs UAE involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in their state-of-the-art laboratory. The test specifically looks for mutations in the TMEM138 gene that are known to cause Joubert Syndrome Type 16. This precise approach allows for an accurate diagnosis, which is crucial for the management and treatment of the condition.

The cost of the TMEM138 Gene Joubert Syndrome Type 16 Genetic Test at DNA Labs UAE is 4400 AED. While the test comes at a significant cost, the information it provides can be invaluable for affected families, offering insights into the condition and guiding decisions regarding care and treatment. Early diagnosis through genetic testing can also enable timely intervention, potentially improving outcomes for individuals with Joubert Syndrome Type 16.

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TMEM138 Gene Joubert Syndrome Type 16 Genetic Test

Test Name: TMEM138 Gene Joubert Syndrome Type 16 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 TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM138 Gene Joubert Syndrome Type 16.

Test Details

The TMEM138 gene is associated with Joubert syndrome type 16. Joubert syndrome is a rare genetic disorder characterized by a specific brain abnormality called the “molar tooth sign” and a range of symptoms including developmental delay, breathing abnormalities, abnormal eye movements, and kidney abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the rapid and comprehensive analysis of multiple genes simultaneously. It can be used to identify mutations or variations in the TMEM138 gene or other genes associated with Joubert syndrome type 16.

By analyzing the DNA sequence of the TMEM138 gene, NGS genetic testing can detect any mutations or variations that may be present. This information can be used for diagnostic purposes, to confirm a suspected diagnosis of Joubert syndrome type 16, and to provide information about the specific genetic variant causing the condition.

NGS genetic testing can also be used for carrier testing, to identify individuals who carry a mutation in the TMEM138 gene but do not have symptoms of Joubert syndrome themselves. This information can be useful for family planning and genetic counseling.

It is important to note that genetic testing should be performed and interpreted by a qualified healthcare professional or genetic counselor. They can provide guidance on the appropriateness of testing, the potential risks and benefits, and the implications of the test results.

Test Name TMEM138 Gene Joubert syndrome type 16 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 TMEM138 Gene Joubert syndrome type 16 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM138 Gene Joubert syndrome type 16
Test Details

The TMEM138 gene is associated with Joubert syndrome type 16. Joubert syndrome is a rare genetic disorder characterized by a specific brain abnormality called the “molar tooth sign” and a range of symptoms including developmental delay, breathing abnormalities, abnormal eye movements, and kidney abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the rapid and comprehensive analysis of multiple genes simultaneously. It can be used to identify mutations or variations in the TMEM138 gene or other genes associated with Joubert syndrome type 16.

By analyzing the DNA sequence of the TMEM138 gene, NGS genetic testing can detect any mutations or variations that may be present. This information can be used for diagnostic purposes, to confirm a suspected diagnosis of Joubert syndrome type 16, and to provide information about the specific genetic variant causing the condition.

NGS genetic testing can also be used for carrier testing, to identify individuals who carry a mutation in the TMEM138 gene but do not have symptoms of Joubert syndrome themselves. This information can be useful for family planning and genetic counseling.

It is important to note that genetic testing should be performed and interpreted by a qualified healthcare professional or genetic counselor. They can provide guidance on the appropriateness of testing, the potential risks and benefits, and the implications of the test results.