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TSEN54 Gene Pontocerebellar Hypoplasia Type 2A Genetic Test Cost

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

-21%

The TSEN54 gene is associated with a rare genetic disorder known as Pontocerebellar Hypoplasia Type 2A (PCH2A), which affects the development and function of the brain, particularly the pons and cerebellum. This condition is characterized by significant developmental delay, movement problems, and intellectual disability, with symptoms appearing in infancy.

A genetic test specifically designed to identify mutations in the TSEN54 gene can confirm a diagnosis of PCH2A. This test is crucial for families seeking answers about their child’s developmental issues, as it can provide definitive evidence of the condition, allowing for better-informed decisions regarding care and management.

In the UAE, this specialized genetic test is available at DNA Labs UAE, a leading facility in genetic diagnostics. The cost of the TSEN54 gene test for Pontocerebellar Hypoplasia Type 2A is 4400 AED. Opting for this test at DNA Labs UAE ensures accuracy and reliability, as the laboratory is equipped with state-of-the-art technology and staffed by professionals experienced in genetic diagnostics. This test is an essential tool for families and healthcare providers in the management and understanding of PCH2A, enabling a targeted approach to treatment and support for affected individuals.

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TSEN54 Gene Pontocerebellar hypoplasia type 2A Genetic Test

At DNA Labs UAE, we offer the TSEN54 Gene Pontocerebellar hypoplasia type 2A Genetic Test for individuals who may be affected by this rare genetic disorder. This test helps in the diagnosis and identification of mutations or variations in the TSEN54 gene that may be causing the disorder.

Test Components

  • 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

Prior to the test, it is important to provide the clinical history of the patient who is undergoing the TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic DNA Test. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with TSEN54 Gene Pontocerebellar hypoplasia type 2A.

Test Details

The TSEN54 gene is associated with a rare genetic disorder called pontocerebellar hypoplasia type 2A (PCH2A). This disorder affects the development of the brain, specifically the pons and cerebellum.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of PCH2A, NGS genetic testing can be used to identify mutations or variations in the TSEN54 gene that may be causing the disorder.

The test involves collecting a sample of DNA, typically through a blood or saliva sample, and then sequencing the TSEN54 gene to identify any genetic changes. The results of the test can help confirm a diagnosis of PCH2A and provide information about the specific genetic changes that are causing the disorder.

Genetic testing for PCH2A can be useful for individuals who are showing symptoms of the disorder, as well as for family members who may be at risk of inheriting the condition. It can also help with genetic counseling and family planning decisions.

It’s important to note that genetic testing is a complex process and should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate interpretation and counseling based on the results.

Test Name TSEN54 Gene Pontocerebellar hypoplasia type 2A 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 TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TSEN54 Gene Pontocerebellar hypoplasia type 2A
Test Details

The TSEN54 gene is associated with a rare genetic disorder called pontocerebellar hypoplasia type 2A (PCH2A). This disorder affects the development of the brain, specifically the pons and cerebellum.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of PCH2A, NGS genetic testing can be used to identify mutations or variations in the TSEN54 gene that may be causing the disorder.

The test involves collecting a sample of DNA, typically through a blood or saliva sample, and then sequencing the TSEN54 gene to identify any genetic changes. The results of the test can help confirm a diagnosis of PCH2A and provide information about the specific genetic changes that are causing the disorder.

Genetic testing for PCH2A can be useful for individuals who are showing symptoms of the disorder, as well as for family members who may be at risk of inheriting the condition. It can also help with genetic counseling and family planning decisions.

It’s important to note that genetic testing is a complex process and should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate interpretation and counseling based on the results.

SKU: TEST-1923