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EMD Gene Emery-Dreifuss muscular dystrophy type 1 Genetic Test

4,400 د.إ

-21%

The EMD gene test for Emery-Dreifuss muscular dystrophy type 1 is a specialized genetic test conducted to diagnose Emery-Dreifuss muscular dystrophy (EDMD) type 1, a condition characterized by muscle weakness and wasting, joint contractures, and heart problems. This test specifically looks for mutations in the EMD gene, which provides instructions for producing emerin, a protein essential for the structural integrity and function of muscle cells and heart cells. Mutations in the EMD gene disrupt the normal production or function of emerin, leading to the symptoms associated with EDMD type 1.

DNA Labs UAE offers this genetic test at a cost of 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to identify any mutations in the EMD gene. It is a critical tool for confirming the diagnosis of EDMD type 1, enabling appropriate management and treatment plans for affected individuals. Additionally, this test can be used for carrier testing and prenatal diagnosis, providing valuable information for family planning decisions.

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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
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.