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ABCA12 Gene Ichthyosis lamellar type 2 Genetic Test

4,400 د.إ

-21%

The ABCA12 Gene Ichthyosis Lamellar Type 2 Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the ABCA12 gene, which are responsible for Ichthyosis Lamellar Type 2, a rare genetic skin disorder. This condition is characterized by the presence of dark, plate-like scales over the body, caused by a defect in skin barrier formation due to the mutation. The test is crucial for early diagnosis, enabling timely intervention and management of the condition to improve the quality of life of affected individuals. The cost of the test is 4400 AED, making it a valuable investment for families with a history of this condition, aiming to provide them with accurate diagnosis and genetic counseling.

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ABCA12 Gene Ichthyosis Lamellar Type 2 Genetic Test

At DNA Labs UAE, we offer the ABCA12 Gene Ichthyosis Lamellar Type 2 Genetic Test for individuals who are suspected to have this genetic disorder. This test helps in identifying mutations in the ABCA12 gene that are associated with lamellar ichthyosis type 2.

Test Components and Price

  • Test Name: ABCA12 Gene Ichthyosis Lamellar Type 2 Genetic Test
  • Price: 4400.0 AED
  • Sample Condition: Blood
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test Type: Osteology Dermatology Immunology Disorders
  • Doctor: Dermatologist
  • Test Department: Genetics

Pre Test Information

Before undergoing the ABCA12 Gene Ichthyosis Lamellar Type 2 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with ABCA12 Gene Ichthyosis Lamellar Type 2 NGS Genetic DNA Test gene ABCA12.

Test Details

The ABCA12 gene ichthyosis, lamellar type 2 NGS genetic test is a diagnostic test that analyzes the DNA sequence of the ABCA12 gene to identify mutations associated with lamellar ichthyosis type 2. Lamellar ichthyosis is a rare genetic disorder characterized by thick, scaly skin resembling fish scales.

The ABCA12 gene is responsible for producing a protein involved in the transport of lipids within the skin cells. Mutations in this gene can disrupt the normal functioning of the protein, leading to a buildup of lipids in the outermost layer of the skin. This results in the formation of thick, scaly skin patches.

The NGS (Next-Generation Sequencing) technology is used to analyze the DNA sequence of the ABCA12 gene, helping to identify any mutations or changes that may be causing the condition. This test can confirm a diagnosis of lamellar ichthyosis type 2 and provide information about the specific genetic variant involved.

Importance of Genetic Testing

Knowing the specific genetic mutation is crucial for genetic counseling as it helps determine the inheritance pattern of the condition and provides information about the risk of passing it on to future generations. It can also guide treatment decisions and management strategies for individuals with lamellar ichthyosis type 2.

It is important to note that this test specifically targets the ABCA12 gene and is not a comprehensive genetic test for all types of ichthyosis or other skin disorders. Additional genetic tests may be required to diagnose other forms of ichthyosis or to identify mutations in other genes associated with skin disorders.

Test Name ABCA12 Gene Ichthyosis lamellar type 2 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Osteology Dermatology Immunology Disorders
Doctor Dermatologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for ABCA12 Gene Ichthyosis, lamellar type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCA12 Gene Ichthyosis, lamellar type 2 NGS Genetic DNA Test gene ABCA12
Test Details

ABCA12 gene ichthyosis, lamellar type 2 NGS genetic test is a diagnostic test used to identify mutations in the ABCA12 gene that are associated with lamellar ichthyosis type 2. Lamellar ichthyosis is a rare genetic disorder characterized by the presence of thick, scaly skin that resembles fish scales.

The ABCA12 gene provides instructions for producing a protein that is involved in the transport of lipids (fats) within the skin cells. Mutations in this gene can disrupt the normal functioning of the protein, leading to a buildup of lipids in the outermost layer of the skin. This results in the formation of thick, scaly skin patches.

The NGS (Next-Generation Sequencing) genetic test analyzes the DNA sequence of the ABCA12 gene to identify any mutations or changes that may be causing the condition. This test can help confirm a diagnosis of lamellar ichthyosis type 2 and provide information about the specific genetic variant involved.

Knowing the specific genetic mutation can be important for genetic counseling, as it can help determine the inheritance pattern of the condition and provide information about the risk of passing it on to future generations. It can also be helpful for guiding treatment decisions and management strategies for individuals with lamellar ichthyosis type 2.

It is important to note that this test specifically targets the ABCA12 gene and is not a comprehensive genetic test for all types of ichthyosis or other skin disorders. Other genetic tests may be required to diagnose other forms of ichthyosis or to identify mutations in other genes associated with skin disorders.

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