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TMEM67 Gene Joubert Syndrome Type 6 Genetic Test

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

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The TMEM67 gene plays a crucial role in the development and function of primary cilia, which are vital for cellular signaling pathways. Mutations in the TMEM67 gene are associated with Joubert Syndrome Type 6, a rare genetic disorder characterized by the malformation of brain structures, leading to developmental delays, coordination problems, and distinctive facial features. To diagnose this condition, genetic testing is available at DNA Labs UAE, specifically targeting the TMEM67 gene mutations. The test is priced at 4400 AED and is conducted in a state-of-the-art laboratory environment, ensuring accurate and reliable results. This genetic test is a crucial step in confirming the diagnosis of Joubert Syndrome Type 6, allowing for appropriate management and care planning for affected individuals.

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TMEM67 Gene Joubert syndrome type 6 Genetic Test

At DNA Labs UAE, we offer the TMEM67 Gene Joubert syndrome type 6 Genetic Test to help diagnose and understand this rare genetic disorder. This test is designed to analyze the TMEM67 gene, which is associated with Joubert syndrome type 6. Joubert syndrome is characterized by neurological and developmental abnormalities, particularly affecting the cerebellum.

Test Components and Price

The TMEM67 Gene Joubert syndrome type 6 Genetic Test is priced at 4400.0 AED. The test can be conducted using a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery and Method

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology, which allows for the analysis of multiple genes simultaneously, providing a comprehensive assessment of genetic variants associated with Joubert syndrome type 6.

Test Type and Doctor

The TMEM67 Gene Joubert syndrome type 6 Genetic Test falls under the category of Neurological Disorders. It is recommended to consult a Neurologist for this test.

Test Department and Pre-Test Information

The TMEM67 Gene Joubert syndrome type 6 Genetic Test is conducted in our Genetics department. Before the test, it is important to provide the clinical history of the patient and undergo a Genetic Counselling session. This session helps in drawing a pedigree chart of family members affected by Joubert syndrome type 6.

About Joubert Syndrome Type 6

Joubert syndrome type 6 is a rare genetic disorder that affects the development of the cerebellum. This leads to a distinct brain malformation known as the “molar tooth sign” on brain imaging. The TMEM67 gene has been identified as one of the genes associated with this syndrome.

NGS Technology and Test Details

NGS (Next-Generation Sequencing) technology is used to analyze the TMEM67 gene in the TMEM67 Gene Joubert syndrome type 6 Genetic Test. This technology allows healthcare professionals to identify specific mutations or variants in the gene that may be responsible for the disorder. The information obtained from this test can aid in accurate diagnosis, genetic counseling, and potentially guide treatment decisions.

It is crucial to note that genetic testing for Joubert syndrome type 6 should always be conducted under the guidance of a healthcare professional or genetic counselor. They can provide appropriate counseling and interpretation of the test results.

If you suspect Joubert syndrome type 6 or have a family history of the disorder, we recommend consulting a healthcare professional to discuss the TMEM67 Gene Joubert syndrome type 6 Genetic Test and its potential benefits.

Test Name TMEM67 Gene Joubert syndrome type 6 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 TMEM67 Gene Joubert syndrome type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM67 Gene Joubert syndrome type 6
Test Details

The TMEM67 gene is associated with Joubert syndrome type 6, which is a rare genetic disorder characterized by neurological and developmental abnormalities. Joubert syndrome affects the development of the cerebellum, leading to a distinctive brain malformation known as the “molar tooth sign” on brain imaging.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, providing a comprehensive assessment of genetic variants that may be associated with a particular condition. In the case of Joubert syndrome type 6, an NGS genetic test can identify mutations or variants in the TMEM67 gene that may be responsible for the disorder.

By analyzing the TMEM67 gene using NGS technology, healthcare professionals can identify specific mutations or variants that may be causative or contribute to Joubert syndrome type 6. This information can help with accurate diagnosis, genetic counseling, and potentially guide treatment decisions.

It’s important to note that genetic testing for Joubert syndrome type 6 should be conducted under the guidance of a healthcare professional or genetic counselor, as they can provide appropriate counseling and interpretation of the results.