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CSPP1 Gene Joubert Syndrome Type 21 Genetic Test

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

-21%

The CSPP1 gene Joubert Syndrome Type 21 genetic test is a specialized diagnostic procedure aimed at detecting mutations in the CSPP1 gene, which are associated with Joubert Syndrome Type 21. This rare genetic disorder is characterized by the underdevelopment of the cerebellum and the brain stem, leading to a range of developmental delays, movement disorders, and characteristic facial features. The test is crucial for early diagnosis and management of the condition, enabling targeted interventions and support for affected individuals and their families.

Conducted at DNA Labs UAE, a leading facility in genetic testing, this test offers a comprehensive analysis of the CSPP1 gene to identify any abnormalities that may indicate Joubert Syndrome Type 21. The cost of the test is set at 4400 AED, reflecting the sophisticated technology and expertise required to accurately diagnose this complex condition. By choosing DNA Labs UAE for this test, patients and healthcare providers can expect reliable results, critical for planning the appropriate care and support for those affected by this syndrome.

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CSPP1 Gene Joubert Syndrome Type 21 Genetic Test

Test Name: CSPP1 Gene Joubert Syndrome Type 21 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 CSPP1 Gene Joubert Syndrome Type 21 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CSPP1 Gene Joubert Syndrome Type 21.

Test Details

The CSPP1 gene is associated with Joubert Syndrome Type 21, a rare genetic disorder characterized by neurological abnormalities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously.

NGS genetic testing for Joubert Syndrome Type 21 would involve sequencing the CSPP1 gene to identify any genetic variations or mutations that may be causing the disorder. This can help with diagnosis, prognosis, and potentially guide treatment options. NGS testing is more comprehensive and efficient compared to traditional sequencing methods, as it can analyze multiple genes in a single test.

Genetic testing for Joubert Syndrome Type 21 can be performed on individuals suspected to have the disorder based on clinical symptoms and family history. It can also be used for carrier testing in individuals with a family history of the disorder who are planning to have children. It’s important to note that genetic testing for Joubert Syndrome Type 21 may not always provide a definitive diagnosis, as there may be other genes or factors involved in the development of the disorder.

Genetic counseling is recommended before and after genetic testing to discuss the benefits, limitations, and implications of the test results.

Test Name CSPP1 Gene Joubert syndrome type 21 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 CSPP1 Gene Joubert syndrome type 21 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CSPP1 Gene Joubert syndrome type 21
Test Details

The CSPP1 gene is associated with Joubert syndrome type 21, a rare genetic disorder characterized by neurological abnormalities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously.

NGS genetic testing for Joubert syndrome type 21 would involve sequencing the CSPP1 gene to identify any genetic variations or mutations that may be causing the disorder. This can help with diagnosis, prognosis, and potentially guide treatment options. NGS testing is more comprehensive and efficient compared to traditional sequencing methods, as it can analyze multiple genes in a single test.

Genetic testing for Joubert syndrome type 21 can be performed on individuals suspected to have the disorder based on clinical symptoms and family history. It can also be used for carrier testing in individuals with a family history of the disorder who are planning to have children.

It’s important to note that genetic testing for Joubert syndrome type 21 may not always provide a definitive diagnosis, as there may be other genes or factors involved in the development of the disorder. Genetic counseling is recommended before and after genetic testing to discuss the benefits, limitations, and implications of the test results.