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TMEM231 Gene Joubert Syndrome Type 20 Genetic Test

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

-21%

The TMEM231 Gene Joubert Syndrome Type 20 Genetic Test is a specific diagnostic tool aimed at detecting mutations in the TMEM231 gene, which are associated with Joubert Syndrome Type 20 (JBTS20). Joubert Syndrome is a rare genetic disorder characterized by the malformation of the cerebellum and brain stem, leading to a range of developmental delays, movement disorders, and often, kidney and eye abnormalities. The TMEM231 gene plays a crucial role in the structure and function of primary cilia, which are essential for cell signaling and organ development.

This genetic test is crucial for early diagnosis and management of the condition, offering insights into potential treatments, interventions, and understanding the risk of recurrence in families. Conducted at DNA Labs UAE, a reputable facility known for its advanced genetic testing services, the test costs 4400 AED. The process involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed for mutations in the TMEM231 gene. Results from this test can provide valuable information for affected individuals and their families, guiding medical care and support services to improve quality of life.

Home  Sample collection service available

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  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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TMEM231 Gene Joubert Syndrome Type 20 Genetic Test

At DNA Labs UAE, we offer the TMEM231 Gene Joubert Syndrome Type 20 Genetic Test at a cost of AED 4400.0. This test is designed to diagnose Joubert syndrome type 20, a rare genetic disorder characterized by brain abnormalities affecting the cerebellum and brainstem.

Test Components and Details

  • Test Name: TMEM231 Gene Joubert Syndrome Type 20 Genetic Test
  • Price: AED 4400.0
  • 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 TMEM231 Gene Joubert Syndrome Type 20 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 Joubert syndrome type 20.

About Joubert Syndrome Type 20 and TMEM231 Gene

Joubert syndrome type 20 is a rare genetic disorder that affects the development of the cerebellum and brainstem, resulting in various symptoms such as intellectual disability, breathing problems, abnormal eye movements, kidney abnormalities, and other physical and neurological features. The TMEM231 gene is associated with this syndrome.

NGS Technology and Genetic Testing

NGS (Next-Generation Sequencing) genetic testing is a powerful tool that allows for the simultaneous analysis of multiple genes, including the TMEM231 gene. It utilizes advanced sequencing technologies to rapidly and accurately sequence DNA, identifying any genetic variations or mutations that may be present.

Benefits of TMEM231 Gene Joubert Syndrome Type 20 Genetic Test

By performing the TMEM231 Gene Joubert Syndrome Type 20 Genetic Test, healthcare professionals can determine if there are any disease-causing variations or mutations in the TMEM231 gene. This information can aid in diagnosis, genetic counseling, and potentially guide treatment options for individuals affected by Joubert syndrome type 20.

Test Name TMEM231 Gene Joubert syndrome type 20 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 TMEM231 Gene Joubert syndrome type 20 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM231 Gene Joubert syndrome type 20
Test Details

The TMEM231 gene is associated with Joubert syndrome type 20, which is a rare genetic disorder characterized by brain abnormalities that affect the development of the cerebellum and brainstem. This syndrome can lead to various symptoms, including intellectual disability, breathing problems, abnormal eye movements, kidney abnormalities, and other physical and neurological features.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including the TMEM231 gene. It uses advanced sequencing technologies to rapidly and accurately sequence the DNA and identify any genetic variations or mutations that may be present.

By performing an NGS genetic test on the TMEM231 gene, healthcare professionals can determine if there are any disease-causing variations or mutations in the gene that may be responsible for Joubert syndrome type 20. This information can help with diagnosis, genetic counseling, and potentially guide treatment options for individuals affected by this syndrome.