DMDBMD Mutation Screening 26 Exons Test
At DNA Labs UAE, we offer the DMDBMD mutation screening 26 exons test. This test is designed to analyze the 26 exons of the DMD (Duchenne muscular dystrophy) gene to identify mutations that may be causing either Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). These are two closely related genetic disorders that affect muscle function.
Test Components
The test components include an EDTA Vacutainer (2ml) for collecting the peripheral blood sample.
Price
The cost of the DMDBMD mutation screening 26 exons test is AED 1500.0.
Sample Condition
The test requires a peripheral blood sample.
Report Delivery
The report for the DMDBMD mutation screening 26 exons test is typically delivered within 4-5 days.
Method
The DMDBMD mutation screening 26 exons test is conducted using the Multiplex End Point PCR method.
Test Type
The DMDBMD mutation screening 26 exons test falls under the category of Genetics tests.
Doctor
The test can be requested by a General Physician.
Test Department
The test is conducted in our Genetics Test Department.
Pre Test Information
A Doctors prescription is required for the DMD/BMD mutation screening (26 exons) test. However, the prescription is not applicable for surgery and pregnancy cases or individuals planning to travel abroad.
Test Details
The DMD/BMD mutation screening involves analyzing the 26 exons of the DMD gene to identify mutations that may be causing Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). The DMD gene is located on the X chromosome and encodes for a protein called dystrophin, which is essential for maintaining the structural integrity of muscle fibers.
To perform the DMD/BMD mutation screening, various techniques can be used, including polymerase chain reaction (PCR), DNA sequencing, and multiplex ligation-dependent probe amplification (MLPA). These methods allow for the identification of specific mutations within the 26 exons of the DMD gene.
The screening process involves isolating DNA from a patient’s blood or tissue sample and amplifying the specific regions of interest using PCR. The amplified DNA is then analyzed using DNA sequencing or MLPA to detect any mutations or deletions within the DMD gene.
Identifying specific mutations in the DMD gene can help in diagnosing DMD or BMD and determining the severity of the condition. It can also be used for carrier testing in families with a history of DMD or BMD. Overall, DMD/BMD mutation screening plays a crucial role in the diagnosis and genetic counseling of individuals with suspected DMD or BMD, as well as in prenatal testing for at-risk pregnancies.
Test Name | DMDBMD mutation screening 26 exons Test |
---|---|
Components | EDTA Vacutainer (2ml) |
Price | 1500.0 AED |
Sample Condition | Peripheral blood |
Report Delivery | 4-5 days |
Method | Multiplex End Point PCR |
Test type | Genetics |
Doctor | General Physician |
Test Department: | |
Pre Test Information | DMD/BMD mutation screening (26 exons) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
DMD/BMD mutation screening involves analyzing the 26 exons of the DMD (Duchenne muscular dystrophy) gene to identify mutations that may be causing either Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). These are two closely related genetic disorders that affect muscle function. The DMD gene is located on the X chromosome and encodes for a protein called dystrophin, which is essential for maintaining the structural integrity of muscle fibers. Mutations in the DMD gene can lead to the absence or dysfunction of dystrophin, resulting in muscle weakness and degeneration. To perform DMD/BMD mutation screening, various techniques can be used, including polymerase chain reaction (PCR), DNA sequencing, and multiplex ligation-dependent probe amplification (MLPA). These methods allow for the identification of specific mutations within the 26 exons of the DMD gene. The screening process involves isolating DNA from a patient’s blood or tissue sample and amplifying the specific regions of interest using PCR. The amplified DNA is then analyzed using DNA sequencing or MLPA to detect any mutations or deletions within the DMD gene. Identifying specific mutations in the DMD gene can help in diagnosing DMD or BMD and determining the severity of the condition. It can also be used for carrier testing in families with a history of DMD or BMD. Overall, DMD/BMD mutation screening plays a crucial role in the diagnosis and genetic counseling of individuals with suspected DMD or BMD, as well as in prenatal testing for at-risk pregnancies. |