Nx GEN SEQUENCING DUCHENNE and BECKER MUSCULAR DYSTROPHY Test
Test Cost: AED 4680.0
Test Components: For MLPA negative cases *DMD
Sample Condition: Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Report Delivery: Sample Daily by 9 am; Report 40 Working days
Method: NGS, Sanger sequencing
Test Type: Genetic Disorders-Muscular Dystrophy
Doctor: Neurologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
What is Nx GEN SEQUENCING DUCHENNE and BECKER MUSCULAR DYSTROPHY Test?
Nx GEN sequencing is a type of genetic testing that can be used to diagnose Duchenne and Becker muscular dystrophy (DMD and BMD). These are two related genetic disorders that affect the muscles.
DMD is a severe form of muscular dystrophy that typically affects boys. It is caused by mutations in the dystrophin gene, which is responsible for producing a protein called dystrophin that helps protect and strengthen muscle fibers. Without dystrophin, the muscles become weak and eventually waste away.
BMD is a milder form of muscular dystrophy that can affect both boys and girls. It is also caused by mutations in the dystrophin gene, but the mutations are typically different from those seen in DMD. The severity of symptoms in BMD can vary widely, with some individuals experiencing mild muscle weakness and others experiencing more severe muscle wasting.
Nx GEN sequencing can be used to identify specific mutations in the dystrophin gene that are associated with DMD and BMD. This type of testing can provide a definitive diagnosis and help guide treatment and management options for individuals with these disorders.
In addition to diagnosing DMD and BMD, Nx GEN sequencing can also be used to determine carrier status in individuals who may be at risk of passing on the genetic mutation to their children. This information can be useful for family planning and genetic counseling.
Overall, Nx GEN sequencing is a powerful tool for diagnosing and understanding genetic disorders such as DMD and BMD, and it can provide valuable information for individuals and families affected by these conditions.
Test Name | Nx GEN SEQUENCING DUCHENNE and BECKER MUSCULAR DYSTROPHY Test |
---|---|
Components | For MLPA negative cases *DMD |
Price | 4680.0 AED |
Sample Condition | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Report Delivery | Sample Daily by 9 am; Report 40 Working days |
Method | NGS, Sanger sequencing |
Test type | Genetic Disorders-Muscular Dystrophy |
Doctor | Neurologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test Details | Nx GEN sequencing is a type of genetic testing that can be used to diagnose Duchenne and Becker muscular dystrophy (DMD and BMD). These are two related genetic disorders that affect the muscles. DMD is a severe form of muscular dystrophy that typically affects boys. It is caused by mutations in the dystrophin gene, which is responsible for producing a protein called dystrophin that helps protect and strengthen muscle fibers. Without dystrophin, the muscles become weak and eventually waste away. BMD is a milder form of muscular dystrophy that can affect both boys and girls. It is also caused by mutations in the dystrophin gene, but the mutations are typically different from those seen in DMD. The severity of symptoms in BMD can vary widely, with some individuals experiencing mild muscle weakness and others experiencing more severe muscle wasting. Nx GEN sequencing can be used to identify specific mutations in the dystrophin gene that are associated with DMD and BMD. This type of testing can provide a definitive diagnosis and help guide treatment and management options for individuals with these disorders. In addition to diagnosing DMD and BMD, Nx GEN sequencing can also be used to determine carrier status in individuals who may be at risk of passing on the genetic mutation to their children. This information can be useful for family planning and genetic counseling. Overall, Nx GEN sequencing is a powerful tool for diagnosing and understanding genetic disorders such as DMD and BMD, and it can provide valuable information for individuals and families affected by these conditions. |