DSP Gene Cardiomyopathy Dilated with Woolly Hair and Keratoderma Genetic Test
Test Name: DSP Gene Cardiomyopathy Dilated with Woolly Hair and Keratoderma Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Cardiovascular Pneumology Disorders
Doctor: Cardiologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for DSP Gene Cardiomyopathy, dilated with woolly hair and keratoderma NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSP Gene Cardiomyopathy, dilated with woolly hair and keratoderma NGS Genetic DNA Test gene DSP
Test Details
DSP gene cardiomyopathy, dilated with woolly hair and keratoderma is a rare genetic disorder that affects the heart, skin, and hair. It is caused by mutations in the DSP gene, which provides instructions for producing a protein called desmoplakin. Desmoplakin is a crucial component of desmosomes, which are structures that help hold cells together in tissues such as the heart, skin, and hair. Mutations in the DSP gene disrupt the normal functioning of desmoplakin, leading to the characteristic features of the disorder.
Cardiomyopathy is a condition that affects the heart muscle, causing it to become weakened and enlarged. In DSP gene cardiomyopathy, the heart becomes dilated, meaning that the chambers of the heart become enlarged and the heart muscle becomes thin and weakened. This can lead to symptoms such as shortness of breath, fatigue, and an irregular heartbeat.
Woolly hair refers to a specific type of hair texture characterized by tightly curled or kinky hair. In individuals with DSP gene cardiomyopathy, woolly hair is often present from birth or early childhood.
Keratoderma is a condition characterized by thickening of the skin on the palms of the hands and soles of the feet. In DSP gene cardiomyopathy, individuals may develop palmoplantar keratoderma, which refers to the thickening and hardening of the skin on the palms and soles.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, allowing for the identification of genetic mutations associated with specific disorders. In the case of DSP gene cardiomyopathy, NGS genetic testing can be used to identify mutations in the DSP gene, confirming the diagnosis.
Genetic testing can be helpful in diagnosing DSP gene cardiomyopathy, as it can provide information about the specific genetic mutation causing the disorder. This information can be useful for understanding the inheritance pattern of the disorder within a family and for providing appropriate medical management and genetic counseling.
| Test Name | DSP Gene Cardiomyopathy dilated with woolly hair and keratoderma 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 | Cardiovascular Pneumology Disorders |
| Doctor | Cardiologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for DSP Gene Cardiomyopathy, dilated with woolly hair and keratoderma NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSP Gene Cardiomyopathy, dilated with woolly hair and keratoderma NGS Genetic DNA Test gene DSP |
| Test Details |
DSP gene cardiomyopathy, dilated with woolly hair and keratoderma is a rare genetic disorder that affects the heart, skin, and hair. It is caused by mutations in the DSP gene, which provides instructions for producing a protein called desmoplakin. Desmoplakin is a crucial component of desmosomes, which are structures that help hold cells together in tissues such as the heart, skin, and hair. Mutations in the DSP gene disrupt the normal functioning of desmoplakin, leading to the characteristic features of the disorder. Cardiomyopathy is a condition that affects the heart muscle, causing it to become weakened and enlarged. In DSP gene cardiomyopathy, the heart becomes dilated, meaning that the chambers of the heart become enlarged and the heart muscle becomes thin and weakened. This can lead to symptoms such as shortness of breath, fatigue, and an irregular heartbeat. Woolly hair refers to a specific type of hair texture characterized by tightly curled or kinky hair. In individuals with DSP gene cardiomyopathy, woolly hair is often present from birth or early childhood. Keratoderma is a condition characterized by thickening of the skin on the palms of the hands and soles of the feet. In DSP gene cardiomyopathy, individuals may develop palmoplantar keratoderma, which refers to the thickening and hardening of the skin on the palms and soles. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, allowing for the identification of genetic mutations associated with specific disorders. In the case of DSP gene cardiomyopathy, NGS genetic testing can be used to identify mutations in the DSP gene, confirming the diagnosis. Genetic testing can be helpful in diagnosing DSP gene cardiomyopathy, as it can provide information about the specific genetic mutation causing the disorder. This information can be useful for understanding the inheritance pattern of the disorder within a family and for providing appropriate medical management and genetic counseling. |
