Spinal Muscular Atrophy Carrier screening Test
Test Name: Spinal Muscular Atrophy Carrier screening Test
Components: EDTA Vacutainer (2ml)
Price: 2250.0 AED
Sample Condition: Peripheral blood
Report Delivery: 7-10 days
Method: MLPA
Test type: Genetics
Doctor: Oncology
Test Department:
Pre Test Information: Spinal Muscular Atrophy Carrier screening can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Details:
Spinal Muscular Atrophy (SMA) carrier screening is a genetic test that can determine if an individual is a carrier for the SMA gene. SMA is a rare genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. Carrier screening for SMA is typically recommended for individuals who are planning to have children or are pregnant. It can help identify individuals who carry a copy of the SMA gene but do not have symptoms of the disorder themselves. If both parents are carriers, there is a 25% chance of having a child with SMA.
The screening test usually involves a blood or saliva sample, which is then analyzed in a laboratory to determine if the individual carries the SMA gene. The test looks for changes or mutations in the SMN1 gene, which is responsible for producing a protein that is essential for the survival of motor neurons.
If a person is found to be a carrier for SMA, they can then discuss their reproductive options with a genetic counselor or healthcare provider. These options may include prenatal testing, in vitro fertilization with preimplantation genetic diagnosis, or adoption.
It is important to note that carrier screening for SMA is not typically included in routine prenatal genetic testing, so individuals who are interested in being screened should discuss it with their healthcare provider.
Test Name | Spinal Muscular Atrophy Carrier screening Test |
---|---|
Components | EDTA Vacutainer (2ml) |
Price | 2250.0 AED |
Sample Condition | Peripheral blood |
Report Delivery | 7-10 days |
Method | MLPA |
Test type | Genetics |
Doctor | Oncology |
Test Department: | |
Pre Test Information | Spinal Muscular Atrophy Carrier screening can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
Spinal Muscular Atrophy (SMA) carrier screening is a genetic test that can determine if an individual is a carrier for the SMA gene. SMA is a rare genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. Carrier screening for SMA is typically recommended for individuals who are planning to have children or are pregnant. It can help identify individuals who carry a copy of the SMA gene but do not have symptoms of the disorder themselves. If both parents are carriers, there is a 25% chance of having a child with SMA. The screening test usually involves a blood or saliva sample, which is then analyzed in a laboratory to determine if the individual carries the SMA gene. The test looks for changes or mutations in the SMN1 gene, which is responsible for producing a protein that is essential for the survival of motor neurons. If a person is found to be a carrier for SMA, they can then discuss their reproductive options with a genetic counselor or healthcare provider. These options may include prenatal testing, in vitro fertilization with preimplantation genetic diagnosis, or adoption. It is important to note that carrier screening for SMA is not typically included in routine prenatal genetic testing, so individuals who are interested in being screened should discuss it with their healthcare provider. |