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TSEN54 Gene Pontocerebellar Hypoplasia Type 4 Genetic Test Cost

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

-21%

The TSEN54 gene pontocerebellar hypoplasia type 4 genetic test is a specialized diagnostic tool designed to detect mutations in the TSEN54 gene, which are associated with pontocerebellar hypoplasia type 4 (PCH4). PCH4 is a rare genetic disorder characterized by the underdevelopment of the cerebellum and brainstem, leading to significant neurological impairments. This condition is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the mutated gene, one from each parent, to be affected.

The test, offered by DNA Labs UAE, is crucial for early diagnosis and management of the condition. It involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to identify any mutations in the TSEN54 gene. Early diagnosis through genetic testing can help in the planning of treatment and management strategies, offering insights into the prognosis and potential interventions to improve the quality of life for affected individuals.

The cost of the TSEN54 gene pontocerebellar hypoplasia type 4 genetic test at DNA Labs UAE is 4400 AED. This investment in genetic testing is vital for families with a history of the condition or those who have had children with similar symptoms, as it provides a definitive diagnosis, guiding further medical and supportive care decisions.

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TSEN54 Gene Pontocerebellar hypoplasia type 4 Genetic Test

Introduction

The TSEN54 gene is associated with a rare genetic disorder called pontocerebellar hypoplasia type 4 (PCH4). PCH4 is characterized by underdevelopment (hypoplasia) of the cerebellum and pons, leading to severe neurological abnormalities.

Test Details

The TSEN54 Gene Pontocerebellar hypoplasia type 4 Genetic Test is a neurology-focused genetic test offered by DNA Labs UAE. This test utilizes Next-Generation Sequencing (NGS) technology to analyze multiple genes simultaneously and identify mutations or variations in the DNA sequence.

Components

  • Test Name: TSEN54 Gene Pontocerebellar hypoplasia type 4 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

Before undergoing the TSEN54 Gene Pontocerebellar hypoplasia type 4 Genetic Test, it is recommended to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with TSEN54 Gene Pontocerebellar hypoplasia type 4.

Benefits of Genetic Testing

Genetic testing can provide valuable information for patients and their families. It can confirm a diagnosis, guide medical management, and provide information about the likelihood of passing on the condition to future generations. It is important to consult with a genetic counselor or healthcare professional to understand the implications and limitations of genetic testing.

For individuals with a family history of PCH4, the TSEN54 Gene Pontocerebellar hypoplasia type 4 Genetic Test can also be used for carrier testing. This test can identify whether they carry a mutation in the TSEN54 gene.

Conclusion

The TSEN54 Gene Pontocerebellar hypoplasia type 4 Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing individuals suspected of having PCH4 and for carrier testing in individuals with a family history of the condition. With its use of NGS technology, this test can analyze multiple genes simultaneously and provide important information for patients and their families.

Test Name TSEN54 Gene Pontocerebellar hypoplasia type 4 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 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TSEN54 Gene Pontocerebellar hypoplasia type 4
Test Details

The TSEN54 gene is associated with a rare genetic disorder called pontocerebellar hypoplasia type 4 (PCH4). PCH4 is characterized by underdevelopment (hypoplasia) of the cerebellum and pons, leading to severe neurological abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations or variations in the DNA sequence. In the case of PCH4, NGS genetic testing can be used to detect mutations in the TSEN54 gene.

By analyzing the TSEN54 gene, NGS genetic testing can help diagnose individuals suspected of having PCH4. It can also be used for carrier testing in individuals with a family history of PCH4, as it can identify whether they carry a mutation in the TSEN54 gene.

Genetic testing can provide valuable information for patients and their families, including confirming a diagnosis, guiding medical management, and providing information about the likelihood of passing on the condition to future generations. It is important to consult with a genetic counselor or healthcare professional to understand the implications and limitations of genetic testing.

SKU: TEST-1928 Category:

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