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CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test

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

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The CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to identify mutations in the CPLANE1 gene, which are associated with Joubert Syndrome Type 17. Joubert Syndrome is a rare genetic disorder characterized by the underdevelopment of the cerebellum and brain stem, leading to a range of developmental delays and physical disabilities. This particular test is crucial for early diagnosis and management of the condition, allowing for tailored therapeutic strategies and support.

Priced at 4400 AED, the test involves collecting a DNA sample from the patient, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for genetic abnormalities in the CPLANE1 gene. The process is conducted with high precision and confidentiality, ensuring reliable results for affected families. Given the complexity of Joubert Syndrome and its impact on individuals’ quality of life, this genetic test is a valuable tool for genetic counseling and planning future medical care.

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CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test

Are you or your loved one experiencing symptoms of Joubert syndrome type 17? DNA Labs UAE offers the CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test to help diagnose this rare genetic disorder. In this blog, we will discuss the test components, cost, symptoms, diagnosis, and other important details.

Test Components and Price

The CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test is priced at 4400.0 AED. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card for analysis.

Report Delivery and Method

After sample collection, the report will be delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology, which allows for the simultaneous analysis of multiple genes or even the entire genome.

Test Type and Doctor

The CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test falls under the category of Neurological Disorders. It is recommended to consult with a Neurologist for this test.

Test Department and Pre Test Information

The CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test is conducted by the Genetics department. Before the test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by Joubert syndrome type 17.

Understanding the CPLANE1 Gene and Joubert Syndrome Type 17

Joubert syndrome type 17 is a rare genetic disorder characterized by brainstem and cerebellum malformation. The CPLANE1 gene is associated with this syndrome and plays a crucial role in the formation and function of cilia, which are hair-like structures found on the surface of cells.

About NGS Genetic Testing

NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to analyze multiple genes or the entire genome simultaneously. It employs advanced sequencing technology to identify variations or mutations in the DNA sequence of the genes being analyzed. In the case of CPLANE1 gene NGS genetic testing, the DNA of the CPLANE1 gene is sequenced to identify any variations or mutations associated with Joubert syndrome type 17.

Benefits of the CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test

The CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test serves several purposes:

  • Confirmation of diagnosis
  • Identification of the specific genetic cause of the disorder
  • Assistance in genetic counseling and family planning decisions

If you suspect Joubert syndrome type 17 or have a family history of this disorder, the CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test can provide valuable insights. It is essential to consult with a Neurologist and undergo genetic testing to ensure accurate diagnosis and appropriate management.

Test Name CPLANE1 Gene Joubert syndrome type 17 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 CPLANE1 Gene Joubert syndrome type 17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CPLANE1 Gene Joubert syndrome type 17
Test Details

The CPLANE1 gene is associated with Joubert syndrome type 17, a rare genetic disorder characterized by a malformation of the brainstem and cerebellum. This gene provides instructions for making a protein involved in the formation and function of cilia, which are tiny hair-like structures found on the surface of cells.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or even the entire genome. It uses advanced sequencing technology to identify variations or mutations in the DNA sequence of the genes being analyzed.

Therefore, a CPLANE1 gene NGS genetic test would involve sequencing the DNA of the CPLANE1 gene to identify any variations or mutations that may be associated with Joubert syndrome type 17. This test can help confirm a diagnosis, provide information about the specific genetic cause of the disorder, and assist in genetic counseling and family planning decisions.