DSP Gene Skin Fragility-Woolly Hair Syndrome Genetic Test
Test Details
DSP Gene Skin fragility-woolly hair syndrome is a rare genetic disorder characterized by fragile skin and woolly hair. It is caused by mutations in the DSP gene, which provides instructions for producing a protein called desmoplakin. Desmoplakin plays a crucial role in the structure and function of desmosomes, which are cell junctions that help hold skin cells together.
NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the DSP gene. This type of testing allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic variations. NGS can help confirm a diagnosis of DSP Gene Skin fragility-woolly hair syndrome and identify specific mutations in the DSP gene that are causing the condition.
Genetic testing can be beneficial for individuals with suspected DSP Gene Skin fragility-woolly hair syndrome, as it can provide a definitive diagnosis, guide treatment decisions, and help with genetic counseling and family planning. It is typically performed using a blood or saliva sample, which is sent to a specialized laboratory for analysis.
It is important to note that genetic testing for DSP Gene Skin fragility-woolly hair syndrome may not be widely available, and the decision to pursue testing should be made in consultation with a healthcare professional or genetic counselor.
Test Name: DSP Gene Skin Fragility-Woolly Hair Syndrome 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: Osteology Dermatology Immunology Disorders
- Doctor: Dermatologist
- Test Department: Genetics
Pre Test Information
Clinical History of Patient who is going for DSP Gene Skin fragility-woolly hair syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSP Gene Skin fragility-woolly hair syndrome NGS Genetic DNA Test gene DSP.
Test Name | DSP Gene Skin fragility-woolly hair syndrome 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 | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for DSP Gene Skin fragility-woolly hair syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSP Gene Skin fragility-woolly hair syndrome NGS Genetic DNA Test gene DSP |
Test Details |
DSP Gene Skin fragility-woolly hair syndrome is a rare genetic disorder characterized by fragile skin and woolly hair. It is caused by mutations in the DSP gene, which provides instructions for producing a protein called desmoplakin. Desmoplakin plays a crucial role in the structure and function of desmosomes, which are cell junctions that help hold skin cells together. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the DSP gene. This type of testing allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic variations. NGS can help confirm a diagnosis of DSP Gene Skin fragility-woolly hair syndrome and identify specific mutations in the DSP gene that are causing the condition. Genetic testing can be beneficial for individuals with suspected DSP Gene Skin fragility-woolly hair syndrome, as it can provide a definitive diagnosis, guide treatment decisions, and help with genetic counseling and family planning. It is typically performed using a blood or saliva sample, which is sent to a specialized laboratory for analysis. It is important to note that genetic testing for DSP Gene Skin fragility-woolly hair syndrome may not be widely available, and the decision to pursue testing should be made in consultation with a healthcare professional or genetic counselor. |