DMD Carrier Screening 79 Exons Test
Test Name: DMD Carrier Screening 79 Exons Test
Components: EDTA Vacutainer (2ml)
Price: 2100.0 AED
Sample Condition: Peripheral blood
Report Delivery: 7-10 days
Method: MLPA
Test Type: Genetics
Doctor: Oncology
Test Department: Pre Test Information
Test Details
DMD carrier screening is a genetic test that examines the 79 exons of the DMD gene to determine if an individual is a carrier for Duchenne muscular dystrophy (DMD). DMD is a genetic disorder characterized by progressive muscle weakness and degeneration. It primarily affects males, while females are typically carriers.
The DMD gene is responsible for producing a protein called dystrophin, which is crucial for maintaining the structure and function of muscle cells. Mutations in the DMD gene lead to a deficiency or absence of dystrophin, resulting in the symptoms of DMD.
Symptoms and Diagnosis
Common symptoms of DMD include progressive muscle weakness, difficulty walking, frequent falls, delayed motor skills development, and muscle wasting. Diagnosis of DMD usually involves a combination of clinical evaluation, family history analysis, and genetic testing.
Pre Test Information
DMD carrier screening (79 Exons) can be done with a doctor’s prescription. However, the prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Process
Carrier screening involves analyzing an individual’s DNA to identify any mutations in the DMD gene. This test is typically recommended for individuals who have a family history of DMD or are planning to have children. It can help determine if a person is a carrier for DMD and has a risk of passing the condition to their children.
The screening process involves collecting a sample of DNA, usually through a blood or saliva sample, and analyzing it in a laboratory. The DNA is sequenced to examine the 79 exons of the DMD gene, looking for any genetic variants or mutations that could be associated with DMD. If a mutation is detected in one or more exons, the individual is considered a carrier for DMD.
Implications and Family Planning
Carriers do not typically exhibit symptoms of the condition but can pass the mutation on to their children. If both parents are carriers, there is a 25% chance that their child will inherit two copies of the mutated gene, resulting in DMD.
DMD carrier screening can provide valuable information for individuals and couples planning to have children. It allows them to make informed decisions about family planning and explore options such as prenatal testing or assisted reproductive technologies to reduce the risk of passing on DMD to their children.
| Test Name | DMD carrier screening 79 Exons Test |
|---|---|
| Components | EDTA Vacutainer (2ml) |
| Price | 2100.0 AED |
| Sample Condition | Peripheral blood |
| Report Delivery | 7-10 days |
| Method | MLPA |
| Test type | Genetics |
| Doctor | Oncology |
| Test Department: | |
| Pre Test Information | DMD carrier screening (79 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 carrier screening is a genetic test that examines the 79 exons of the DMD gene to determine if an individual is a carrier for Duchenne muscular dystrophy (DMD). DMD is a genetic disorder characterized by progressive muscle weakness and degeneration. It primarily affects males, while females are typically carriers. The DMD gene is responsible for producing a protein called dystrophin, which is crucial for maintaining the structure and function of muscle cells. Mutations in the DMD gene lead to a deficiency or absence of dystrophin, resulting in the symptoms of DMD. Carrier screening involves analyzing an individual’s DNA to identify any mutations in the DMD gene. This test is typically recommended for individuals who have a family history of DMD or are planning to have children. It can help determine if a person is a carrier for DMD and has a risk of passing the condition to their children. The screening process involves collecting a sample of DNA, usually through a blood or saliva sample, and analyzing it in a laboratory. The DNA is sequenced to examine the 79 exons of the DMD gene, looking for any genetic variants or mutations that could be associated with DMD. If a mutation is detected in one or more exons, the individual is considered a carrier for DMD. Carriers do not typically exhibit symptoms of the condition but can pass the mutation on to their children. If both parents are carriers, there is a 25% chance that their child will inherit two copies of the mutated gene, resulting in DMD. DMD carrier screening can provide valuable information for individuals and couples planning to have children. It allows them to make informed decisions about family planning and explore options such as prenatal testing or assisted reproductive technologies to reduce the risk of passing on DMD to their children. |
