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ITPR1 Gene Spinocerebellar Ataxia Type 29 Congenital Nonprogressive Genetic Test Cost

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

-21%

The ITPR1 gene is implicated in Spinocerebellar Ataxia Type 29 (SCA29), a rare, congenital, nonprogressive neurological disorder characterized by early-onset ataxia, delayed motor development, and mild cognitive impairment. This condition is inherited in an autosomal dominant pattern, meaning a mutation in just one copy of the gene in each cell is sufficient to cause the disorder. The ITPR1 gene plays a crucial role in calcium signaling within cells, essential for various cellular processes, including coordination and motor control, which are affected in SCA29.

To diagnose SCA29 and confirm its genetic basis, a specific genetic test is available at DNA Labs UAE. This test focuses on identifying mutations in the ITPR1 gene that are responsible for the condition. Given the complexity of genetic testing and the need for precise results, the test is priced at 4400 AED. Conducting this test can provide crucial information for families affected by SCA29, enabling them to understand the genetic underpinnings of the disorder, consider genetic counseling, and make informed decisions regarding management and support for affected family members.

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ITPR1 Gene Spinocerebellar Ataxia Type 29 Congenital Nonprogressive Genetic Test

Test Name: ITPR1 Gene Spinocerebellar Ataxia Type 29 Congenital Nonprogressive 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 ITPR1 Gene Spinocerebellar Ataxia Type 29, congenital nonprogressive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ITPR1 Gene Spinocerebellar Ataxia Type 29, congenital nonprogressive.

Test Details

ITPR1 gene spinocerebellar ataxia type 29, congenital nonprogressive is a genetic disorder characterized by ataxia, which is a lack of muscle coordination, particularly in the limbs. This condition is caused by mutations in the ITPR1 gene, which provides instructions for making a protein called inositol 1,4,5-trisphosphate receptor type 1.

NGS genetic testing, also known as next-generation sequencing, is a technique used to analyze multiple genes simultaneously and identify genetic variations or mutations. In the case of spinocerebellar ataxia type 29, NGS genetic testing can be used to detect mutations in the ITPR1 gene.

The congenital nonprogressive form of spinocerebellar ataxia type 29 means that the symptoms are present from birth and do not worsen over time. This distinguishes it from other forms of spinocerebellar ataxia that may have a progressive nature.

NGS genetic testing can help in the diagnosis of spinocerebellar ataxia type 29 by identifying specific mutations in the ITPR1 gene. This information can be useful for genetic counseling, determining the risk of passing on the condition to offspring, and potentially guiding treatment options in the future.

It is important to consult with a healthcare professional or genetic counselor to discuss the appropriateness and availability of NGS genetic testing for spinocerebellar ataxia type 29, congenital nonprogressive. They can provide further information and guidance based on an individual’s specific situation.

Test Name ITPR1 Gene Spinocerebellar ataxia type 29 congenital nonprogressive 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 ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive
Test Details

ITPR1 gene spinocerebellar ataxia type 29, congenital nonprogressive is a genetic disorder characterized by ataxia, which is a lack of muscle coordination, particularly in the limbs. This condition is caused by mutations in the ITPR1 gene, which provides instructions for making a protein called inositol 1,4,5-trisphosphate receptor type 1.

NGS genetic testing, also known as next-generation sequencing, is a technique used to analyze multiple genes simultaneously and identify genetic variations or mutations. In the case of spinocerebellar ataxia type 29, NGS genetic testing can be used to detect mutations in the ITPR1 gene.

The congenital nonprogressive form of spinocerebellar ataxia type 29 means that the symptoms are present from birth and do not worsen over time. This distinguishes it from other forms of spinocerebellar ataxia that may have a progressive nature.

NGS genetic testing can help in the diagnosis of spinocerebellar ataxia type 29 by identifying specific mutations in the ITPR1 gene. This information can be useful for genetic counseling, determining the risk of passing on the condition to offspring, and potentially guiding treatment options in the future.

It is important to consult with a healthcare professional or genetic counselor to discuss the appropriateness and availability of NGS genetic testing for spinocerebellar ataxia type 29, congenital nonprogressive. They can provide further information and guidance based on an individual’s specific situation.

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