DSP Gene Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis Genetic Test
Genetic testing is an essential tool in diagnosing and understanding rare genetic disorders such as Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis. This specific genetic test focuses on the DSP gene, which is responsible for producing the protein desmoplakin. Mutations in this gene can lead to various symptoms and complications.
Test Details
Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in the DSP gene, which provides instructions for making desmoplakin. Desmoplakin is crucial for the proper functioning of desmosomes, structures that hold cells together in tissues like the heart, skin, and teeth.
The DSP Gene Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis Genetic Test utilizes NGS (Next-Generation Sequencing) technology to identify mutations in the DSP gene. By sequencing the entire gene, this test can detect any changes or abnormalities in the DNA sequence, confirming a diagnosis of this disorder and providing information about the specific genetic mutation involved.
Test Components and Price
The DSP Gene Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis Genetic Test costs AED 4400.0. The sample condition required for testing can be either blood, extracted DNA, or one drop of blood on an FTA card. The report delivery typically takes 3 to 4 weeks, and the test is performed in the Genetics department.
Pre Test Information
Prior to undergoing the DSP Gene Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by this disorder. This information helps in understanding the inheritance pattern and assists in family planning.
Importance of Genetic Testing
Genetic testing for Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis is not only crucial for confirming a diagnosis but also for identifying carriers of the mutation among family members. This information is valuable for family planning and understanding the inheritance pattern of the disorder.
It is important to note that genetic testing should always be performed by a qualified healthcare professional or genetic counselor. They can interpret the results, provide appropriate counseling and guidance, discuss potential treatment options, and offer management strategies for individuals with this disorder.
| Test Name | DSP Gene Dilated cardiomyopathy with woolly hair keratoderma and tooth agenesis 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 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSP Gene Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis NGS Genetic DNA Test gene DSP |
| Test Details |
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in the DSP gene, which provides instructions for making a protein called desmoplakin. Desmoplakin is an important component of desmosomes, which are structures that help hold cells together in tissues such as the heart, skin, and teeth. Mutations in the DSP gene disrupt the normal functioning of desmoplakin, leading to the symptoms associated with this disorder. A NGS (Next-Generation Sequencing) genetic test can be used to identify mutations in the DSP gene. This test involves sequencing the entire gene to detect any changes or abnormalities in the DNA sequence. It can help confirm a diagnosis of dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis and provide information about the specific genetic mutation involved. Genetic testing can also be useful for family members of individuals with this disorder, as it can determine if they are carriers of the mutation and at risk of passing it on to their children. This information can help with family planning and provide insights into the inheritance pattern of the disorder. It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance. They can also discuss potential treatment options and management strategies for individuals with this disorder. |
