ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type Genetic Test
Test Details
The ABCA12 gene is responsible for producing a protein called ATP-binding cassette subfamily A member 12. Mutations in this gene can lead to a rare genetic disorder known as Ichthyosis congenital, Harlequin fetus type. Ichthyosis congenital, Harlequin fetus type is a severe form of ichthyosis, a group of skin disorders characterized by dry, scaly skin. Infants with this condition are born with thick, hard plates of skin that crack and split, resembling the scales of a fish. The skin abnormalities can cause complications such as difficulty breathing, feeding difficulties, and increased risk of infection.
Test Name: ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type 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 congenital, Harlequin fetus type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic DNA Test gene ABCA12.
Method: NGS Technology
NGS (Next Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously to identify mutations or variations that may be associated with a particular disorder. In the case of Ichthyosis congenital, Harlequin fetus type, NGS genetic testing can be used to analyze the ABCA12 gene for any pathogenic mutations. NGS genetic testing involves sequencing the DNA of the individual being tested and comparing it to a reference genome. This allows for the identification of any variations or mutations in the ABCA12 gene that may be causing the disorder. The results of the NGS genetic test can help confirm a diagnosis of Ichthyosis congenital, Harlequin fetus type and provide information about the specific genetic variant involved.
Benefits of Genetic Testing
Genetic testing can be helpful for individuals and families affected by Ichthyosis congenital, Harlequin fetus type by providing a definitive diagnosis, allowing for appropriate medical management, and providing information about the risk of passing the condition on to future children. It can also help in genetic counseling and family planning decisions. It is important to note that genetic testing for Ichthyosis congenital, Harlequin fetus type should be performed by a qualified healthcare professional or genetic counselor who can provide appropriate guidance and support throughout the testing process.
| Test Name | ABCA12 Gene Ichthyosis congenital Harlequin fetus type 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 congenital, Harlequin fetus type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic DNA Test gene ABCA12 |
| Test Details | The ABCA12 gene is responsible for producing a protein called ATP-binding cassette subfamily A member 12. Mutations in this gene can lead to a rare genetic disorder known as Ichthyosis congenital, Harlequin fetus type. Ichthyosis congenital, Harlequin fetus type is a severe form of ichthyosis, a group of skin disorders characterized by dry, scaly skin. Infants with this condition are born with thick, hard plates of skin that crack and split, resembling the scales of a fish. The skin abnormalities can cause complications such as difficulty breathing, feeding difficulties, and increased risk of infection. NGS (Next Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously to identify mutations or variations that may be associated with a particular disorder. In the case of Ichthyosis congenital, Harlequin fetus type, NGS genetic testing can be used to analyze the ABCA12 gene for any pathogenic mutations. NGS genetic testing involves sequencing the DNA of the individual being tested and comparing it to a reference genome. This allows for the identification of any variations or mutations in the ABCA12 gene that may be causing the disorder. The results of the NGS genetic test can help confirm a diagnosis of Ichthyosis congenital, Harlequin fetus type and provide information about the specific genetic variant involved. Genetic testing can be helpful for individuals and families affected by Ichthyosis congenital, Harlequin fetus type by providing a definitive diagnosis, allowing for appropriate medical management, and providing information about the risk of passing the condition on to future children. It can also help in genetic counseling and family planning decisions. It is important to note that genetic testing for Ichthyosis congenital, Harlequin fetus type should be performed by a qualified healthcare professional or genetic counselor who can provide appropriate guidance and support throughout the testing process. |
