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KIAA0586 Gene Joubert Syndrome Type 23 Genetic Test

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

-21%

The KIAA0586 gene, implicated in Joubert Syndrome Type 23, is the focus of a specific genetic test available at DNA Labs UAE. Joubert Syndrome is a rare genetic disorder characterized by a distinctive “molar tooth sign” on brain imaging, along with a range of symptoms including developmental delays, hypotonia, and sometimes retinal dystrophy and kidney abnormalities. The disorder is part of a group of diseases known as ciliopathies, caused by dysfunction of cilia, which are microscopic cellular structures important in cell communication and signaling.

The genetic test for Joubert Syndrome Type 23 at DNA Labs UAE specifically targets mutations in the KIAA0586 gene, which have been identified as causative for this subtype of the syndrome. By analyzing a patient’s DNA sample, the test can confirm a diagnosis of Joubert Syndrome Type 23, thereby facilitating appropriate management and treatment plans for the patient. Additionally, this test can be instrumental for families seeking to understand their genetic makeup, especially for those planning future pregnancies.

The cost of the KIAA0586 gene test at DNA Labs UAE is 4400 AED. Given the specialized nature of this test, it represents a crucial investment for families affected by Joubert Syndrome, providing them with valuable genetic insights that can help manage the condition more effectively.

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KIAA0586 Gene Joubert syndrome type 23 Genetic Test

Components: KIAA0586 Gene Joubert syndrome type 23 Genetic Test

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 KIAA0586 Gene Joubert syndrome type 23 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KIAA0586 Gene Joubert syndrome type 23.

Test Details: The KIAA0586 gene is associated with Joubert syndrome type 23, a rare genetic disorder characterized by developmental delay, intellectual disability, breathing abnormalities, and abnormal eye and kidney development. NGS (Next-Generation Sequencing) Genetic Test refers to a type of genetic testing method that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of Joubert syndrome type 23, NGS Genetic Test can be used to identify mutations or variations in the KIAA0586 gene that may be responsible for the disorder. This test involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any genetic changes in the KIAA0586 gene. The results of the NGS Genetic Test can help confirm a diagnosis of Joubert syndrome type 23 and provide important information for medical management and genetic counseling. It can also be useful for identifying carriers of the gene mutation in families with a history of the disorder.

Test Name KIAA0586 Gene Joubert syndrome type 23 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 KIAA0586 Gene Joubert syndrome type 23 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KIAA0586 Gene Joubert syndrome type 23
Test Details

The KIAA0586 gene is associated with Joubert syndrome type 23, a rare genetic disorder characterized by developmental delay, intellectual disability, breathing abnormalities, and abnormal eye and kidney development.

NGS (Next-Generation Sequencing) Genetic Test refers to a type of genetic testing method that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of Joubert syndrome type 23, NGS Genetic Test can be used to identify mutations or variations in the KIAA0586 gene that may be responsible for the disorder.

This test involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any genetic changes in the KIAA0586 gene.

The results of the NGS Genetic Test can help confirm a diagnosis of Joubert syndrome type 23 and provide important information for medical management and genetic counseling. It can also be useful for identifying carriers of the gene mutation in families with a history of the disorder.