Delta Beta-Thalassaemia Mutation Screening Test
Cost: AED 1050.0
Test Name: Delta Beta-Thalassaemia mutation screening Test
Components: EDTA Vacutainer (2ml)
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
Delta Beta-Thalassaemia mutation screening can be done with a doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Details
Delta Beta-Thalassaemia is a type of thalassemia caused by mutations in the delta-beta-globin gene cluster. These mutations result in reduced or absent production of the delta and beta globin chains, leading to abnormal hemoglobin production.
Mutation screening for Delta Beta-Thalassaemia involves analyzing the DNA of an individual to identify specific mutations in the delta-beta-globin gene cluster. This can be done using various molecular techniques, such as polymerase chain reaction (PCR) and DNA sequencing.
PCR is used to amplify the specific region of the delta-beta-globin gene cluster that contains the mutations of interest. The amplified DNA is then sequenced to identify any genetic variations or mutations. The sequencing data is compared to a reference sequence to determine the presence of specific mutations associated with Delta Beta-Thalassaemia.
There are several known mutations associated with Delta Beta-Thalassaemia, including deletions, insertions, and point mutations. Common mutations include the 619-bp deletion, the -101 C>T mutation, and the -87 C>G mutation. Identification of these mutations can help diagnose individuals with Delta Beta-Thalassaemia and provide information about the severity of the condition.
Mutation screening for Delta Beta-Thalassaemia is important for genetic counseling, carrier detection, and prenatal diagnosis. It allows individuals and families to make informed decisions about family planning and reproductive options.
Additionally, early detection of Delta Beta-Thalassaemia mutations can help in the management and treatment of affected individuals, including regular blood transfusions and chelation therapy to reduce iron overload.
Overall, Delta Beta-Thalassaemia mutation screening plays a crucial role in the diagnosis, management, and prevention of this genetic disorder.
| Test Name | Delta Beta-Thalassaemia mutation screening Test |
|---|---|
| Components | EDTA Vacutainer (2ml) |
| 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 | Delta Beta-Thalassaemia 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 |
Delta Beta-Thalassaemia is a type of thalassemia caused by mutations in the delta-beta-globin gene cluster. These mutations result in reduced or absent production of the delta and beta globin chains, leading to abnormal hemoglobin production. Mutation screening for Delta Beta-Thalassaemia involves analyzing the DNA of an individual to identify specific mutations in the delta-beta-globin gene cluster. This can be done using various molecular techniques, such as polymerase chain reaction (PCR) and DNA sequencing. PCR is used to amplify the specific region of the delta-beta-globin gene cluster that contains the mutations of interest. The amplified DNA is then sequenced to identify any genetic variations or mutations. The sequencing data is compared to a reference sequence to determine the presence of specific mutations associated with Delta Beta-Thalassaemia. There are several known mutations associated with Delta Beta-Thalassaemia, including deletions, insertions, and point mutations. Common mutations include the 619-bp deletion, the -101 C>T mutation, and the -87 C>G mutation. Identification of these mutations can help diagnose individuals with Delta Beta-Thalassaemia and provide information about the severity of the condition. Mutation screening for Delta Beta-Thalassaemia is important for genetic counseling, carrier detection, and prenatal diagnosis. It allows individuals and families to make informed decisions about family planning and reproductive options. Additionally, early detection of Delta Beta-Thalassaemia mutations can help in the management and treatment of affected individuals, including regular blood transfusions and chelation therapy to reduce iron overload. Overall, Delta Beta-Thalassaemia mutation screening plays a crucial role in the diagnosis, management, and prevention of this genetic disorder. |
