Duchenne Becker Muscular Dystrophy DMD BMD Gene Mutation Test
At DNA Labs UAE, we offer the Duchenne Becker Muscular Dystrophy (DMD/BMD) gene mutation test. This genetic test is used to identify mutations in the DMD gene, which is responsible for producing the dystrophin protein that maintains the structure and function of muscle cells.
Test Details
The DMD/BMD gene mutation test involves analyzing a person’s DNA to identify any mutations or changes in the DMD gene. This can be done through techniques such as DNA sequencing or gene deletion/duplication analysis.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are both caused by mutations in the DMD gene. However, they differ in terms of severity and age of onset. DMD is a more severe form that typically presents in early childhood and results in progressive muscle weakness and loss of function. BMD is a milder form that usually presents in adolescence or adulthood and has a slower progression.
Test Components and Price
The DMD/BMD gene mutation test costs AED 3280.0. The sample condition required is 3 mL (2 mL min.) whole blood in 1 lavender top (EDTA) tube. The sample should be shipped refrigerated and should not be frozen. A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for the test.
Report Delivery
The sample should be submitted by Monday before 11 am, and the report will be delivered on Saturday.
Test Type and Department
The DMD/BMD gene mutation test falls under the category of genetic disorders and is performed in the Molecular Diagnostics department.
Pre Test Information
A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for the test.
Doctor and Referral
The test can be referred by a Physician, Pediatrician, or Neurologist.
Importance of the Test
The DMD/BMD gene mutation test is essential for confirming a diagnosis of DMD or BMD and determining the specific mutation present in the individual. This information is crucial for understanding the prognosis, planning treatment strategies, and providing genetic counseling to affected individuals and their families.
The test results can also be used for carrier testing in family members who may be at risk of passing on the mutation to future generations.
It is important to note that the DMD/BMD gene mutation test should be ordered by a healthcare provider and performed in a specialized laboratory. The results should be interpreted by a qualified healthcare professional who can provide appropriate guidance and support based on the individual’s specific situation.
Test Name | DUCHENNE BECKER MUSCULAR DYSTROPHY DMD BMD GENE MUTATION Test |
---|---|
Components | |
Price | 3280.0 AED |
Sample Condition | 3 mL (2 mL min.) whole blood in 1 lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Report Delivery | SampleMon by 11 am; Report Sat |
Method | MLPA |
Test type | Genetic disorders |
Doctor | Physician, Pediatrician, Neurologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Test Details |
The Duchenne/Becker Muscular Dystrophy (DMD/BMD) gene mutation test is a genetic test that is used to identify mutations in the DMD gene. This gene is responsible for producing a protein called dystrophin, which is crucial for maintaining the structure and function of muscle cells. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are both caused by mutations in the DMD gene, but they differ in terms of severity and age of onset. DMD is a more severe form that typically presents in early childhood and results in progressive muscle weakness and loss of function. BMD is a milder form that usually presents in adolescence or adulthood and has a slower progression. The DMD/BMD gene mutation test involves analyzing a person’s DNA to identify any mutations or changes in the DMD gene. This can be done through various techniques, such as DNA sequencing or gene deletion/duplication analysis. The test can help confirm a diagnosis of DMD or BMD and determine the specific mutation present in the individual. Knowing the specific mutation can be important for understanding the prognosis, planning treatment strategies, and providing genetic counseling to affected individuals and their families. Additionally, this information can be used for carrier testing in family members who may be at risk of passing on the mutation to future generations. It is important to note that the DMD/BMD gene mutation test is typically ordered by a healthcare provider and performed in a specialized laboratory. The results should be interpreted by a qualified healthcare professional who can provide appropriate guidance and support based on the individual’s specific situation. |