KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome Genetic Test
Cost: AED 4400.0
Symptoms, Diagnosis, and Test Details
The KRT14 gene is responsible for encoding the keratin 14 protein, which is a structural protein found in the skin, hair, and nails. Mutations in this gene can cause Naegeli-Franceschetti-Jadassohn syndrome (NFJS), a rare genetic disorder characterized by abnormal skin pigmentation, thickening of the skin on the palms and soles, and the absence or reduction of sweat glands.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of NFJS, NGS can be used to identify mutations in the KRT14 gene or other genes associated with the syndrome. This type of testing can provide a comprehensive analysis of an individual’s genetic makeup and help diagnose the underlying cause of their symptoms.
By identifying the specific genetic mutation causing NFJS, NGS genetic testing can also be used for carrier screening and prenatal diagnosis in families with a history of the condition. Additionally, it can aid in genetic counseling and management of the disorder.
Test Components and Price
Components: KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome Genetic Test
Price: AED 4400.0
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 KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic DNA Test gene KRT14.
Test Name | KRT14 Gene Naegeli-Franceschetti-Jadassohn 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 KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic DNA Test gene KRT14 |
Test Details |
The KRT14 gene is responsible for encoding the keratin 14 protein, which is a structural protein found in the skin, hair, and nails. Mutations in this gene can cause Naegeli-Franceschetti-Jadassohn syndrome (NFJS), which is a rare genetic disorder characterized by abnormal skin pigmentation, thickening of the skin on the palms and soles, and the absence or reduction of sweat glands. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of NFJS, NGS can be used to identify mutations in the KRT14 gene or other genes associated with the syndrome. This type of testing can provide a comprehensive analysis of an individual’s genetic makeup and help diagnose the underlying cause of their symptoms. By identifying the specific genetic mutation causing NFJS, NGS genetic testing can also be used for carrier screening and prenatal diagnosis in families with a history of the condition. Additionally, it can aid in genetic counseling and management of the disorder. |