Sickle Cell Disease Mutation Screening Test
Cost: 1050.0 AED
Symptoms, Diagnosis, and Test Details
The Sickle Cell Disease Mutation Screening Test offered by DNA Labs UAE is a genetic test that helps diagnose sickle cell disease. Sickle cell disease is a genetic disorder caused by a mutation in the gene that codes for hemoglobin, a protein responsible for carrying oxygen in the red blood cells. This mutation leads to the production of abnormal hemoglobin, known as hemoglobin S, which causes the red blood cells to become sickle-shaped instead of their normal round shape.
The Sickle Cell Disease Mutation Screening Test can be done using different methods:
- Hemoglobin Electrophoresis: This method involves separating different types of hemoglobin based on their electrical charge. Hemoglobin S migrates differently than normal hemoglobin, allowing for the identification of the mutation.
- Polymerase Chain Reaction (PCR): PCR is a molecular biology technique used to amplify specific DNA sequences. In the case of sickle cell disease, PCR can be used to amplify the region of the gene that contains the mutation. The amplified DNA can then be analyzed to determine the presence of the mutation.
- DNA Sequencing: DNA sequencing is a method used to determine the exact order of nucleotides in a DNA molecule. In the case of sickle cell disease, DNA sequencing can be used to identify the specific mutation responsible for the disorder.
The Sickle Cell Disease Mutation Screening Test requires a peripheral blood sample collected in an EDTA Vacutainer (2 ml). The test results are typically delivered within 3-4 days.
Pre Test Information
Sickle Cell Disease Mutation Screening Test can be done with a doctor’s prescription. However, please note that the prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Importance of Mutation Screening
Mutation screening for sickle cell disease is important for several reasons. Firstly, it allows for early detection of the disease, which can lead to early intervention and treatment. Secondly, it enables carrier screening, which is crucial for individuals who are planning to have children.
If both parents are carriers of the sickle cell mutation, there is a 25% chance that their child will have the disease. Carrier screening can help individuals make informed decisions about family planning and reproductive options.
In conclusion, sickle cell disease mutation screening involves testing individuals for the specific mutation responsible for the disorder. Various methods, such as hemoglobin electrophoresis, PCR, and DNA sequencing, can be used for screening. Mutation screening is important for early detection, intervention, and carrier screening.
Consultation
If you suspect that you or someone you know may have sickle cell disease or if you have any questions regarding the Sickle Cell Disease Mutation Screening Test, it is recommended to consult with a General Physician or a specialist in genetics.
Contact DNA Labs UAE
If you would like to schedule a Sickle Cell Disease Mutation Screening Test or have any further inquiries, please contact DNA Labs UAE. Our dedicated team of professionals is here to assist you.
| Test Name | Sickle Cell Disease Mutation Screening Test |
|---|---|
| Components | EDTA Vacutainer (2 ml) |
| Price | 1050.0 AED |
| Sample Condition | Peripheral blood |
| Report Delivery | 3-4 days |
| Method | End Point PCR |
| Test type | Genetics |
| Doctor | General Physician |
| Test Department: | |
| Pre Test Information | Sickle Cell Disease Mutation 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 |
Sickle cell disease is a genetic disorder caused by a mutation in the gene that codes for hemoglobin, a protein responsible for carrying oxygen in the red blood cells. The mutation leads to the production of abnormal hemoglobin, known as hemoglobin S, which causes the red blood cells to become sickle-shaped instead of their normal round shape. Mutation screening for sickle cell disease involves testing individuals for the presence of the specific mutation responsible for the disorder. There are several methods used for screening, including: 1. Hemoglobin Electrophoresis: This is a common method used to screen for sickle cell disease. It involves separating different types of hemoglobin based on their electrical charge. Hemoglobin S migrates differently than normal hemoglobin, allowing for the identification of the mutation. 2. Polymerase Chain Reaction (PCR): PCR is a molecular biology technique used to amplify specific DNA sequences. In the case of sickle cell disease, PCR can be used to amplify the region of the gene that contains the mutation. The amplified DNA can then be analyzed to determine the presence of the mutation. 3. DNA Sequencing: DNA sequencing is a method used to determine the exact order of nucleotides in a DNA molecule. In the case of sickle cell disease, DNA sequencing can be used to identify the specific mutation responsible for the disorder. Mutation screening for sickle cell disease is important for several reasons. It allows for early detection of the disease, which can lead to early intervention and treatment. It also allows for carrier screening, which is important for individuals who are planning to have children. If both parents are carriers of the sickle cell mutation, there is a 25% chance that their child will have the disease. Carrier screening can help individuals make informed decisions about family planning and reproductive options. In conclusion, sickle cell disease mutation screening involves testing individuals for the specific mutation responsible for the disorder. Various methods, such as hemoglobin electrophoresis, PCR, and DNA sequencing, can be used for screening. Mutation screening is important for early detection, intervention, and carrier screening. |
