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TWNK Gene Spinocerebellar Ataxia Infantile-Onset Genetic Test Cost

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

-21%

The “TWNK Gene Spinocerebellar Ataxia Infantile-Onset Genetic Test” is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the TWNK gene, which are associated with the development of spinocerebellar ataxia with infantile onset. Spinocerebellar ataxia is a progressive, degenerative genetic disorder characterized by poor coordination of hands, eyes, and speech, as well as a loss of motor control that typically begins in childhood. The TWNK gene plays a crucial role in mitochondrial DNA replication and maintenance; mutations in this gene can disrupt these processes, leading to the symptoms observed in affected individuals.

This genetic test is critical for early detection and management of the condition, enabling healthcare providers to offer targeted interventions that can improve the quality of life for affected individuals. The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of mutations in the TWNK gene.

The cost of the “TWNK Gene Spinocerebellar Ataxia Infantile-Onset Genetic Test” at DNA Labs UAE is 4400 AED. This investment covers the expenses related to the sophisticated techniques and equipment required for accurate genetic analysis. Early and precise diagnosis through this test can be instrumental in guiding treatment decisions, providing genetic counseling, and facilitating family planning for those carrying the gene mutation.

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TWNK Gene Spinocerebellar Ataxia Infantile-Onset Genetic Test

Test Name: TWNK Gene Spinocerebellar Ataxia Infantile-Onset 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 TWNK Gene Spinocerebellar Ataxia, Infantile-Onset NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TWNK Gene Spinocerebellar Ataxia, Infantile-Onset.

Test Details

The TWNK gene spinocerebellar ataxia, infantile-onset NGS genetic test is a genetic test that analyzes the TWNK gene for mutations associated with infantile-onset spinocerebellar ataxia. Spinocerebellar ataxia is a group of genetic disorders characterized by progressive degeneration of the cerebellum, leading to problems with movement, balance, and coordination.

The TWNK gene provides instructions for producing a protein called Twinkle. This protein is involved in the maintenance and replication of mitochondrial DNA, which is essential for normal mitochondrial function. Mutations in the TWNK gene can disrupt the production or function of the Twinkle protein, leading to mitochondrial dysfunction and the development of spinocerebellar ataxia.

The NGS (Next-Generation Sequencing) genetic test involves analyzing the DNA sequence of the TWNK gene to identify any mutations or variations that may be present. This test can help diagnose infantile-onset spinocerebellar ataxia and provide valuable information for genetic counseling and management of the condition.

It is important to note that this test specifically focuses on the TWNK gene and is designed for individuals suspected of having infantile-onset spinocerebellar ataxia. Other genetic tests may be required to investigate different types of spinocerebellar ataxia or other related conditions. A healthcare professional or genetic counselor can provide more information and guidance regarding genetic testing options.

Test Name TWNK Gene Spinocerebellar ataxia infantile-onset 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 TWNK Gene Spinocerebellar ataxia, infantile-onset NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TWNK Gene Spinocerebellar ataxia, infantile-onset
Test Details

TWNK gene spinocerebellar ataxia, infantile-onset NGS genetic test is a genetic test that analyzes the TWNK gene for mutations associated with infantile-onset spinocerebellar ataxia. Spinocerebellar ataxia is a group of genetic disorders characterized by progressive degeneration of the cerebellum, leading to problems with movement, balance, and coordination.

The TWNK gene provides instructions for producing a protein called Twinkle. This protein is involved in the maintenance and replication of mitochondrial DNA, which is essential for normal mitochondrial function. Mutations in the TWNK gene can disrupt the production or function of the Twinkle protein, leading to mitochondrial dysfunction and the development of spinocerebellar ataxia.

The NGS (Next-Generation Sequencing) genetic test involves analyzing the DNA sequence of the TWNK gene to identify any mutations or variations that may be present. This test can help diagnose infantile-onset spinocerebellar ataxia and provide valuable information for genetic counseling and management of the condition.

It is important to note that this test specifically focuses on the TWNK gene and is designed for individuals suspected of having infantile-onset spinocerebellar ataxia. Other genetic tests may be required to investigate different types of spinocerebellar ataxia or other related conditions. A healthcare professional or genetic counselor can provide more information and guidance regarding genetic testing options.

SKU: TEST-2085