Alpha Thalassemia Mutation Screening
Alpha Thalassemia mutation screening is a genetic test offered by DNA Labs UAE. This test is used to identify three common mutations in the alpha globin gene. The three mutations that are screened for include the Southeast Asian, Filipino, and Thai deletions.
Test Details
The Alpha Thalassemia mutation screening test requires a 2ml EDTA Vacutainer sample of peripheral blood. The cost of the test is 1600.0 AED and the report will be delivered within 7-8 days. The method used for this test is End Point PCR and it falls under the Genetics department of the lab.
Symptoms and Diagnosis
Alpha Thalassemia is an inherited blood disorder that is characterized by a reduction in the production of alpha globin chains, which are necessary for the formation of hemoglobin. The severity of the condition can vary depending on the number and type of mutations present. Common symptoms of Alpha Thalassemia include fatigue, pale skin, weakness, and shortness of breath.
To diagnose Alpha Thalassemia, a doctor’s prescription is required. However, please note that the prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Common Mutations
The Southeast Asian deletion is the most common mutation found in individuals of Southeast Asian descent. It involves the deletion of four base pairs in the alpha globin gene, resulting in reduced alpha globin chain production.
The Filipino deletion is specific to individuals of Filipino descent. It involves the deletion of three base pairs in the alpha globin gene, leading to decreased alpha globin chain production.
The Thai deletion is found in individuals of Thai descent. It involves the deletion of one base pair in the alpha globin gene, resulting in reduced alpha globin chain production.
Method and Benefits
Alpha Thalassemia mutation screening can be performed using various methods, such as polymerase chain reaction (PCR) or DNA sequencing. By identifying these common mutations, healthcare professionals can provide accurate diagnosis, genetic counseling, and appropriate management for individuals with alpha thalassemia.
This test is especially beneficial for individuals of Southeast Asian, Filipino, and Thai descent, as it helps in identifying the specific mutations associated with Alpha Thalassemia.
Conclusion
Alpha Thalassemia mutation screening is an important genetic test offered by DNA Labs UAE. By identifying the three common mutations in the alpha globin gene, healthcare professionals can provide accurate diagnosis and appropriate management for individuals with Alpha Thalassemia. If you suspect you may have Alpha Thalassemia or have a family history of the condition, it is recommended to consult a General Physician and get a prescription for this test.
| Test Name | Alpha Thalassemia mutation screening 3 common mutation Test |
|---|---|
| Components | EDTA Vacutainer (2ml) |
| Price | 1600.0 AED |
| Sample Condition | Peripheral blood |
| Report Delivery | 7-8 days |
| Method | End Point PCR |
| Test type | Genetics |
| Doctor | General Physician |
| Test Department: | |
| Pre Test Information | Alpha Thalassemia mutation screening (3 common mutation) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
| Test Details | Alpha thalassemia mutation screening is a genetic test that is used to identify three common mutations in the alpha globin gene. These mutations are known as the Southeast Asian, Filipino, and Thai deletions. Alpha thalassemia is an inherited blood disorder characterized by a reduction in the production of alpha globin chains, which are necessary for the formation of hemoglobin. The severity of the condition can vary depending on the number and type of mutations present. The Southeast Asian deletion is the most common mutation found in individuals of Southeast Asian descent. It involves the deletion of four base pairs in the alpha globin gene, resulting in reduced alpha globin chain production. The Filipino deletion is specific to individuals of Filipino descent. It involves the deletion of three base pairs in the alpha globin gene, leading to decreased alpha globin chain production. The Thai deletion is found in individuals of Thai descent. It involves the deletion of one base pair in the alpha globin gene, resulting in reduced alpha globin chain production. Alpha thalassemia mutation screening can be performed using various methods, such as polymerase chain reaction (PCR) or DNA sequencing. By identifying these common mutations, healthcare professionals can provide accurate diagnosis, genetic counseling, and appropriate management for individuals with alpha thalassemia. |
