Beta Thalassemia -12 Common Mutations Screening Single Test
Test Name: Beta Thalassemia -12 Common Mutations screening Single Test
Components: EDTA Vacutainer (2ml)
Price: 1800.0 AED
Sample Condition: Peripheral blood
Report Delivery: 6-7 days
Method: End Point PCR
Test Type: Genetics
Doctor: General Physician
Test Department:
Pre Test Information: Beta Thalassemia -12 Common Mutations screening (Single) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Details: Beta thalassemia is a genetic disorder characterized by reduced or absent production of beta-globin chains, resulting in a decrease in hemoglobin synthesis. There are several different mutations that can cause beta thalassemia, with some being more common than others. Here are 12 common mutations that can be screened for in beta thalassemia:
- IVS-I-1 (G > A): This mutation affects the splice site of the first intron of the beta-globin gene.
- IVS-I-6 (T > C): This mutation affects the splice site of the first intron of the beta-globin gene.
- IVS-I-110 (G > A): This mutation affects the splice site of the first intron of the beta-globin gene.
- Codon 5 (-CT): This mutation results in a deletion of two nucleotides at codon 5 of the beta-globin gene.
- Codon 8 (-AA): This mutation results in a deletion of two nucleotides at codon 8 of the beta-globin gene.
- Codon 15 (G > A): This mutation results in a substitution of guanine with adenine at codon 15 of the beta-globin gene.
- Codon 16 (-C): This mutation results in a deletion of one nucleotide at codon 16 of the beta-globin gene.
- Codon 17 (A > T): This mutation results in a substitution of adenine with thymine at codon 17 of the beta-globin gene.
- Codon 26 (G > A): This mutation results in a substitution of guanine with adenine at codon 26 of the beta-globin gene.
- Codon 27/28 (+C): This mutation results in an insertion of one nucleotide at codon 27/28 of the beta-globin gene.
- Codon 41/42 (-TCTT): This mutation results in a deletion of four nucleotides at codon 41/42 of the beta-globin gene.
- Codon 71/72 (+A): This mutation results in an insertion of one nucleotide at codon 71/72 of the beta-globin gene.
Screening for these common mutations can help in the diagnosis and management of beta thalassemia, as it allows for early detection and appropriate genetic counseling.
Test Name | Beta Thalassemia -12 Common Mutations screening Single Test |
---|---|
Components | EDTA Vacutainer (2ml) |
Price | 1800.0 AED |
Sample Condition | Peripheral blood |
Report Delivery | 6-7 days |
Method | End Point PCR |
Test type | Genetics |
Doctor | General Physician |
Test Department: | |
Pre Test Information | Beta Thalassemia -12 Common Mutations screening (Single) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
Beta thalassemia is a genetic disorder characterized by reduced or absent production of beta-globin chains, resulting in a decrease in hemoglobin synthesis. There are several different mutations that can cause beta thalassemia, with some being more common than others. Here are 12 common mutations that can be screened for in beta thalassemia: 1. IVS-I-1 (G > A): This mutation affects the splice site of the first intron of the beta-globin gene. 2. IVS-I-6 (T > C): This mutation affects the splice site of the first intron of the beta-globin gene. 3. IVS-I-110 (G > A): This mutation affects the splice site of the first intron of the beta-globin gene. 4. Codon 5 (-CT): This mutation results in a deletion of two nucleotides at codon 5 of the beta-globin gene. 5. Codon 8 (-AA): This mutation results in a deletion of two nucleotides at codon 8 of the beta-globin gene. 6. Codon 15 (G > A): This mutation results in a substitution of guanine with adenine at codon 15 of the beta-globin gene. 7. Codon 16 (-C): This mutation results in a deletion of one nucleotide at codon 16 of the beta-globin gene. 8. Codon 17 (A > T): This mutation results in a substitution of adenine with thymine at codon 17 of the beta-globin gene. 9. Codon 26 (G > A): This mutation results in a substitution of guanine with adenine at codon 26 of the beta-globin gene. 10. Codon 27/28 (+C): This mutation results in an insertion of one nucleotide at codon 27/28 of the beta-globin gene. 11. Codon 41/42 (-TCTT): This mutation results in a deletion of four nucleotides at codon 41/42 of the beta-globin gene. 12. Codon 71/72 (+A): This mutation results in an insertion of one nucleotide at codon 71/72 of the beta-globin gene. Screening for these common mutations can help in the diagnosis and management of beta thalassemia, as it allows for early detection and appropriate genetic counseling. |