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PIEZO2 Gene Marden-Walker syndrome Genetic Test

4,400 د.إ

-21%

The PIEZO2 Gene Marden-Walker Syndrome Genetic Test is a specialized diagnostic tool designed to identify mutations in the PIEZO2 gene, which are associated with Marden-Walker Syndrome. Marden-Walker Syndrome is a rare congenital disorder characterized by multiple skeletal abnormalities, including a fixed facial expression, joint contractures, and a decrease in muscle tone. This condition is believed to be largely caused by mutations in the PIEZO2 gene, which plays a crucial role in the body’s mechanical responses to stimuli.

The test is conducted at DNA Labs UAE, a reputable facility known for its comprehensive genetic testing services. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the lab to detect any mutations in the PIEZO2 gene. This test is crucial for families seeking a definitive diagnosis of Marden-Walker Syndrome, as it can guide treatment options and help in understanding the prognosis.

The cost of the PIEZO2 Gene Marden-Walker Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This price reflects the sophisticated technology and expertise required to accurately identify mutations in the PIEZO2 gene. While the cost may be significant, the test offers invaluable insights for affected individuals and their families, aiding in the management and understanding of Marden-Walker Syndrome.

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PIEZO2 Gene Marden-Walker Syndrome Genetic Test

Cost: AED 4400.0

Test Components:

  • Price: AED 4400.0
  • 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 PIEZO2 Gene Marden-Walker Syndrome NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with PIEZO2 Gene Marden-Walker Syndrome

Test Details:

The PIEZO2 gene is responsible for encoding the PIEZO2 protein, which is involved in the sense of touch and proprioception (the perception of one’s body position and movement). Mutations in the PIEZO2 gene can lead to a rare genetic disorder known as Marden-Walker syndrome.

Marden-Walker syndrome is characterized by a combination of features including joint contractures (stiff joints), muscle weakness, intellectual disability, and facial abnormalities. Individuals with Marden-Walker syndrome may also have a small head (microcephaly), cleft palate, and respiratory difficulties.

NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the PIEZO2 gene. This type of testing involves sequencing the entire coding region of the gene to detect any changes or variations in the DNA sequence. NGS is a powerful tool that allows for the analysis of multiple genes simultaneously, providing a comprehensive genetic profile.

Genetic testing for Marden-Walker syndrome can help confirm a diagnosis in individuals with suspected symptoms and can also be used for carrier testing in families with a history of the condition. It can provide important information for healthcare providers and genetic counselors to guide patient management and offer appropriate support and resources.

It’s important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.

Test Name PIEZO2 Gene Marden-Walker syndrome 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 PIEZO2 Gene Marden-Walker syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PIEZO2 Gene Marden-Walker syndrome
Test Details

The PIEZO2 gene is responsible for encoding the PIEZO2 protein, which is involved in the sense of touch and proprioception (the perception of one’s body position and movement). Mutations in the PIEZO2 gene can lead to a rare genetic disorder known as Marden-Walker syndrome.

Marden-Walker syndrome is characterized by a combination of features including joint contractures (stiff joints), muscle weakness, intellectual disability, and facial abnormalities. Individuals with Marden-Walker syndrome may also have a small head (microcephaly), cleft palate, and respiratory difficulties.

NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the PIEZO2 gene. This type of testing involves sequencing the entire coding region of the gene to detect any changes or variations in the DNA sequence. NGS is a powerful tool that allows for the analysis of multiple genes simultaneously, providing a comprehensive genetic profile.

Genetic testing for Marden-Walker syndrome can help confirm a diagnosis in individuals with suspected symptoms and can also be used for carrier testing in families with a history of the condition. It can provide important information for healthcare providers and genetic counselors to guide patient management and offer appropriate support and resources.

It’s important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.