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EXOSC8 Gene Joubert syndrome EXOSC8 related Genetic Test

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

-21%

The EXOSC8 gene is associated with Joubert syndrome, a rare genetic disorder characterized by the underdevelopment of the cerebellum and brainstem, leading to coordination and developmental delays among other symptoms. Mutations in the EXOSC8 gene can cause a specific form of this syndrome, making genetic testing a crucial step for accurate diagnosis and management.

At DNA Labs UAE, individuals suspected of having Joubert syndrome related to the EXOSC8 gene mutation can undergo a specialized genetic test. This test is meticulously designed to detect mutations in the EXOSC8 gene, providing essential information for confirming the diagnosis, understanding the prognosis, and making informed decisions about treatment and management.

The cost of the EXOSC8 related genetic test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the lab using advanced genetic sequencing techniques. The results of this test not only help in diagnosing Joubert syndrome caused by EXOSC8 mutations but also enable genetic counseling for families, offering insights into the risk of passing the condition to future generations.

Given the complexity and rarity of the condition, this genetic testing is a valuable resource for affected individuals and their families, providing them with critical information for managing the syndrome effectively.

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EXOSC8 Gene Joubert Syndrome Genetic Test

Test Name: EXOSC8 Gene Joubert syndrome EXOSC8 related 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 EXOSC8 Gene Joubert syndrome, EXOSC8 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EXOSC8 Gene Joubert syndrome, EXOSC8 related.

Test Details:

The EXOSC8 gene is associated with Joubert syndrome, which is a rare genetic disorder characterized by a specific brain malformation called the “molar tooth sign.” Joubert syndrome affects the development of the cerebellum and brainstem, leading to various neurological and physical abnormalities.

The EXOSC8 gene provides instructions for making a protein called exosome component 8. This protein is part of a complex called the exosome, which plays a role in RNA processing and degradation. Mutations in the EXOSC8 gene can disrupt the normal function of the exosome complex, leading to the development of Joubert syndrome.

To diagnose Joubert syndrome and identify mutations in the EXOSC8 gene, a Next-Generation Sequencing (NGS) genetic test can be performed. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes, including the EXOSC8 gene.

NGS genetic testing involves obtaining a DNA sample, usually through a blood sample or cheek swab, and sequencing the DNA to identify any mutations or variations in the EXOSC8 gene. This can help confirm a diagnosis of Joubert syndrome and provide information about the specific genetic variant causing the condition.

It is important to note that genetic testing for Joubert syndrome and the EXOSC8 gene is typically performed in specialized genetic testing laboratories and requires a referral from a healthcare provider or genetic counselor.

The results of the test can help guide medical management, provide information about the risk of recurrence in future pregnancies, and potentially offer insights into potential treatment options or clinical trials.

Test Name EXOSC8 Gene Joubert syndrome EXOSC8 related 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 EXOSC8 Gene Joubert syndrome, EXOSC8 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EXOSC8 Gene Joubert syndrome, EXOSC8 related
Test Details

The EXOSC8 gene is associated with Joubert syndrome, which is a rare genetic disorder characterized by a specific brain malformation called the “molar tooth sign.” Joubert syndrome affects the development of the cerebellum and brainstem, leading to various neurological and physical abnormalities.

The EXOSC8 gene provides instructions for making a protein called exosome component 8. This protein is part of a complex called the exosome, which plays a role in RNA processing and degradation. Mutations in the EXOSC8 gene can disrupt the normal function of the exosome complex, leading to the development of Joubert syndrome.

To diagnose Joubert syndrome and identify mutations in the EXOSC8 gene, a Next-Generation Sequencing (NGS) genetic test can be performed. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes, including the EXOSC8 gene.

NGS genetic testing involves obtaining a DNA sample, usually through a blood sample or cheek swab, and sequencing the DNA to identify any mutations or variations in the EXOSC8 gene. This can help confirm a diagnosis of Joubert syndrome and provide information about the specific genetic variant causing the condition.

It is important to note that genetic testing for Joubert syndrome and the EXOSC8 gene is typically performed in specialized genetic testing laboratories and requires a referral from a healthcare provider or genetic counselor. The results of the test can help guide medical management, provide information about the risk of recurrence in future pregnancies, and potentially offer insights into potential treatment options or clinical trials.