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AMPD2 Gene Pontocerebellar Hypoplasia Type 9 Genetic Test

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

-21%

The AMPD2 gene pontocerebellar hypoplasia type 9 genetic test is a specialized diagnostic tool used to identify mutations in the AMPD2 gene, which are associated with pontocerebellar hypoplasia type 9 (PCH9). This rare genetic disorder is characterized by the underdevelopment of the cerebellum and pons, critical regions of the brain that are involved in movement coordination and communication between different parts of the brain. Symptoms of PCH9 can include severe developmental delay, motor impairments, and intellectual disabilities.

This genetic test is essential for confirming a diagnosis of PCH9, allowing for appropriate management and care planning for affected individuals. The test involves analyzing the patient’s DNA, extracted from a blood sample, to look for specific mutations in the AMPD2 gene that are known to cause the condition.

Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test ensures high accuracy and reliability. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to perform this specialized analysis. By providing a definitive diagnosis, the test plays a crucial role in the medical management of patients with pontocerebellar hypoplasia type 9, guiding treatment decisions and offering families critical information about the condition.

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AMPD2 Gene Pontocerebellar Hypoplasia Type 9 Genetic Test

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:

A Genetic Counselling session to draw a pedigree chart of family members affected with AMPD2 Gene Pontocerebellar Hypoplasia, type 9.

Test Details:

Pontocerebellar hypoplasia, type 9 (PCH9) is a rare genetic disorder characterized by underdevelopment (hypoplasia) of the pons and cerebellum, which are parts of the brain involved in coordinating movement and balance. It is caused by mutations in the AMPD2 gene.

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 PCH9, NGS genetic testing can be used to identify mutations in the AMPD2 gene that are responsible for the condition. By analyzing the entire coding region of the AMPD2 gene, NGS genetic testing can provide a comprehensive assessment of genetic variations that may be present. This can help in confirming a diagnosis of PCH9 and determining the specific mutation responsible for the condition.

NGS genetic testing is typically performed using a blood sample or other tissue samples from the affected individual. The sample is then sequenced using NGS technology, and the resulting data is analyzed to identify any genetic variations in the AMPD2 gene.

The information obtained from NGS genetic testing can be used for genetic counseling, family planning, and potentially for developing personalized treatment strategies in the future. It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals who specialize in genetics.

Test Name AMPD2 Gene Pontocerebellar hypoplasia type 9 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 AMPD2 Gene Pontocerebellar hypoplasia, type 9 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AMPD2 Gene Pontocerebellar hypoplasia, type 9
Test Details

Pontocerebellar hypoplasia, type 9 (PCH9) is a rare genetic disorder characterized by underdevelopment (hypoplasia) of the pons and cerebellum, which are parts of the brain involved in coordinating movement and balance. It is caused by mutations in the AMPD2 gene.

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 PCH9, NGS genetic testing can be used to identify mutations in the AMPD2 gene that are responsible for the condition.

By analyzing the entire coding region of the AMPD2 gene, NGS genetic testing can provide a comprehensive assessment of genetic variations that may be present. This can help in confirming a diagnosis of PCH9 and determining the specific mutation responsible for the condition.

NGS genetic testing is typically performed using a blood sample or other tissue samples from the affected individual. The sample is then sequenced using NGS technology, and the resulting data is analyzed to identify any genetic variations in the AMPD2 gene.

The information obtained from NGS genetic testing can be used for genetic counseling, family planning, and potentially for developing personalized treatment strategies in the future. It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals who specialize in genetics.

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