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PAX6 Gene Coloboma of Optic Nerve Genetic Test

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

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The PAX6 Gene Coloboma of Optic Nerve Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the PAX6 gene, which are associated with the development of coloboma of the optic nerve. Coloboma is a condition characterized by the incomplete closure of the optic nerve, leading to vision impairment and potentially blindness. The PAX6 gene plays a crucial role in eye development during the embryonic stage, and mutations in this gene can disrupt normal eye formation, resulting in various ocular anomalies including coloboma.

This genetic test involves analyzing the patient’s DNA to detect any abnormalities in the PAX6 gene that might contribute to the condition. The process is non-invasive, requiring only a sample of blood or saliva from the patient. The test is particularly recommended for individuals with a family history of coloboma or related eye disorders, as well as for those exhibiting symptoms of the condition, to provide a definitive diagnosis and facilitate appropriate management and treatment plans.

The cost of the PAX6 Gene Coloboma of Optic Nerve Genetic Test at DNA Labs UAE is 4400 AED. This investment can provide critical insights into the genetic underpinnings of coloboma, allowing for targeted interventions and counseling for affected individuals and their families. It is a crucial step towards personalized medicine in the realm of ophthalmology, offering hope and solutions to those impacted by this challenging condition.

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PAX6 Gene Coloboma of Optic Nerve Genetic Test

At DNA Labs UAE, we offer the PAX6 Gene Coloboma of Optic Nerve Genetic Test for patients who are experiencing symptoms related to this condition. This test can provide valuable insights into the genetic basis of the condition and help in making a diagnosis and determining appropriate treatment options.

Test Components and Price

The PAX6 Gene Coloboma of Optic Nerve Genetic Test is priced at AED 4400.0. The test components include:

  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test Type: Ophthalmology Disorders
  • Doctor: Ophthalmologist
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the PAX6 Gene Coloboma of Optic Nerve Genetic Test, it is important for the patient to provide their clinical history. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the condition.

Test Details

The PAX6 gene plays a crucial role in the development of the eyes and other organs in the body. Mutations in this gene can result in various eye disorders, including coloboma of the optic nerve. This condition is characterized by a gap or hole in the optic nerve.

NGS (next-generation sequencing) technology is utilized in this genetic test. It allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of the genetic basis of the condition. In the case of coloboma of the optic nerve, NGS testing can identify mutations in the PAX6 gene that may be responsible for the condition.

The NGS testing process involves sequencing the entire coding region of the PAX6 gene, which includes all the exons that code for the protein. The DNA sample required for this test is typically obtained from a blood sample or saliva sample.

The results of the PAX6 Gene Coloboma of Optic Nerve Genetic Test provide information on the specific mutation(s) present in the PAX6 gene. This information can aid in making a diagnosis and determining appropriate treatment options.

It is important to note that while NGS testing is not a cure for coloboma of the optic nerve or any other genetic disorder, it can provide valuable information for patients and their families. This information allows them to make informed decisions about their healthcare and genetic counseling.

Test Name PAX6 Gene Coloboma of optic nerve 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 Ophthalmology Disorders
Doctor Ophthalmologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for PAX6 Gene Coloboma of optic nerve NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PAX6 Gene Coloboma of optic nerve NGS Genetic DNA Test gene PAX6
Test Details

The PAX6 gene is responsible for the development of the eyes and other organs in the body. Mutations in this gene can lead to various eye disorders, including coloboma of the optic nerve, which is a condition where there is a gap or hole in the optic nerve.

NGS (next-generation sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously, providing a comprehensive analysis of the genetic basis of a particular condition. In the case of coloboma of the optic nerve, NGS testing can identify mutations in the PAX6 gene that may be responsible for the condition.

NGS testing involves sequencing the entire coding region of the PAX6 gene, which includes all the exons that code for the protein. The DNA sample is usually obtained from a blood sample or saliva sample. The results of the test can provide information on the specific mutation(s) present in the PAX6 gene and can help in making a diagnosis and determining appropriate treatment options.

It is important to note that NGS testing is not a cure for coloboma of the optic nerve or any other genetic disorder. However, it can provide valuable information for patients and their families, allowing them to make informed decisions about their healthcare and genetic counseling.