EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 Genetic Test
Test Name: EMD Gene Emery-Dreifuss muscular dystrophy type 1 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EMD Gene Emery-Dreifuss muscular dystrophy type 1.
Test Details: EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic Test is a genetic test that identifies mutations in the EMD gene associated with Emery-Dreifuss muscular dystrophy type 1 (EDMD1). EDMD1 is a rare genetic disorder that affects the muscles and the heart, causing progressive muscle weakness and wasting, joint contractures, and cardiac abnormalities. The EMD gene provides instructions for making a protein called emerin, which plays a critical role in maintaining the structure and function of the nucleus in muscle cells. Mutations in the EMD gene disrupt the normal function of emerin, leading to the development of EDMD1. The NGS (next-generation sequencing) technology used in this test allows for the rapid and accurate detection of mutations in the EMD gene, enabling early diagnosis and appropriate treatment of EDMD1.
Test Name | EMD Gene Emery-Dreifuss muscular dystrophy type 1 Genetic Test |
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Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EMD Gene Emery-Dreifuss muscular dystrophy type 1 |
Test Details |
EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic Test is a genetic test that identifies mutations in the EMD gene associated with Emery-Dreifuss muscular dystrophy type 1 (EDMD1). EDMD1 is a rare genetic disorder that affects the muscles and the heart, causing progressive muscle weakness and wasting, joint contractures, and cardiac abnormalities. The EMD gene provides instructions for making a protein called emerin, which plays a critical role in maintaining the structure and function of the nucleus in muscle cells. Mutations in the EMD gene disrupt the normal function of emerin, leading to the development of EDMD1. The NGS (next-generation sequencing) technology used in this test allows for the rapid and accurate detection of mutations in the EMD gene, enabling early diagnosis and appropriate treatment of EDMD1. |