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COL4A1 Gene Porencephaly Familial Genetic Test Cost

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

-21%

The COL4A1 gene plays a crucial role in the development and maintenance of the brain’s blood vessels. Mutations in this gene can lead to a rare neurological disorder known as porencephaly, which is characterized by the presence of cysts or cavities within the brain. These abnormalities can lead to a range of symptoms, including developmental delays, seizures, and cerebral palsy, depending on the severity and location of the cysts.

Familial genetic testing for mutations in the COL4A1 gene is essential for families with a history of porencephaly, as it can provide valuable information for understanding the risk of the disorder being passed to future generations. This genetic test can also be beneficial for early diagnosis and management in families where the genetic mutation is present.

In the United Arab Emirates, DNA Labs UAE offers a specialized genetic test to identify mutations in the COL4A1 gene. The cost of this test is 4400 AED. This testing facility provides a comprehensive service, including the collection of a DNA sample, usually through a blood draw or cheek swab, and detailed analysis in their state-of-the-art laboratory. The results from this test can help guide families and their healthcare providers in making informed decisions about care and management for individuals who may be affected by porencephaly.

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COL4A1 Gene Porencephaly familial Genetic Test

Test Name: COL4A1 Gene Porencephaly familial Genetic Test

Components: COL4A1 gene analysis

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: Dysmorphology

Doctor: Pediatrics

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for COL4A1 Gene Porencephaly, familial NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A1 Gene Porencephaly, familial NGS Genetic DNA Test gene COL4A1

Test Details

The COL4A1 gene porencephaly, familial NGS genetic test is a genetic test that uses next-generation sequencing (NGS) technology to analyze the COL4A1 gene for specific mutations or variations associated with familial porencephaly.

Porencephaly is a rare neurological disorder characterized by the presence of fluid-filled cavities or cysts in the brain. It can lead to various symptoms such as developmental delays, seizures, intellectual disability, and movement disorders.

The COL4A1 gene provides instructions for making a protein called type IV collagen, which is an important component of basement membranes in various tissues, including the brain. Mutations or variations in the COL4A1 gene can disrupt the normal function of type IV collagen, leading to the development of porencephaly.

The familial NGS genetic test specifically looks for mutations or variations in the COL4A1 gene that are known to be associated with familial porencephaly. NGS technology allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of the COL4A1 gene and potentially other genes related to porencephaly.

The test involves collecting a sample of DNA, usually through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any mutations or variations in the COL4A1 gene.

The results of the test can help diagnose familial porencephaly and guide treatment and management options. It is important to note that this genetic test is specifically designed for individuals with a family history of porencephaly. It may not be suitable for individuals without a known family history of the condition.

Genetic counseling is recommended before and after the test to discuss the potential risks, benefits, and limitations of the test, as well as to provide support and guidance for individuals and families undergoing genetic testing.

Test Name COL4A1 Gene Porencephaly familial Genetic 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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for COL4A1 Gene Porencephaly, familial NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A1 Gene Porencephaly, familial NGS Genetic DNA Test gene COL4A1
Test Details

COL4A1 gene porencephaly, familial NGS genetic test is a genetic test that uses next-generation sequencing (NGS) technology to analyze the COL4A1 gene for specific mutations or variations associated with familial porencephaly.

Porencephaly is a rare neurological disorder characterized by the presence of fluid-filled cavities or cysts in the brain. It can lead to various symptoms such as developmental delays, seizures, intellectual disability, and movement disorders.

The COL4A1 gene provides instructions for making a protein called type IV collagen, which is an important component of basement membranes in various tissues, including the brain. Mutations or variations in the COL4A1 gene can disrupt the normal function of type IV collagen, leading to the development of porencephaly.

The familial NGS genetic test specifically looks for mutations or variations in the COL4A1 gene that are known to be associated with familial porencephaly. NGS technology allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of the COL4A1 gene and potentially other genes related to porencephaly.

The test involves collecting a sample of DNA, usually through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any mutations or variations in the COL4A1 gene. The results of the test can help diagnose familial porencephaly and guide treatment and management options.

It is important to note that this genetic test is specifically designed for individuals with a family history of porencephaly. It may not be suitable for individuals without a known family history of the condition. Genetic counseling is recommended before and after the test to discuss the potential risks, benefits, and limitations of the test, as well as to provide support and guidance for individuals and families undergoing genetic testing.

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