Hemophilia A Common Mutation Screening Factor VIII Intron 22 Inversion analysis Test
Test Name: Hemophilia A Common Mutation Screening Factor VIII Intron 22 Inversion analysis Test
Components: EDTA Vacutainer (2ml)
Price: 2400.0 AED
Sample Condition: Peripheral blood
Report Delivery: 10-11 days
Method: End Point PCR
Test Type: Genetics
Doctor: General Physician
Test Department:
Pre Test Information: Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion analysis) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Details:
Hemophilia A is a genetic disorder characterized by the absence or deficiency of clotting factor VIII, which is essential for normal blood clotting. It is caused by various mutations in the F8 gene, which codes for factor VIII. One common mutation in hemophilia A is the Factor VIII Intron 22 inversion. This mutation involves a rearrangement of genetic material within the F8 gene, specifically in intron 22. In normal individuals, intron 22 is located between exons 22 and 23 of the F8 gene. However, in individuals with the Factor VIII Intron 22 inversion, intron 22 is flipped and inserted back into the gene in the opposite orientation.
The Factor VIII Intron 22 inversion mutation leads to a disruption in the production of functional factor VIII protein. As a result, affected individuals have reduced or absent factor VIII activity, leading to impaired blood clotting and an increased risk of bleeding.
To screen for the Factor VIII Intron 22 inversion mutation, various molecular techniques can be employed. One commonly used method is polymerase chain reaction (PCR), which amplifies specific DNA sequences. In this case, PCR can be used to amplify the region encompassing intron 22 of the F8 gene. The amplified DNA can then be analyzed to determine the presence or absence of the inversion mutation.
Other methods, such as multiplex ligation-dependent probe amplification (MLPA), can also be used to detect the Factor VIII Intron 22 inversion. MLPA is a technique that allows for the detection of copy number variations, such as gene duplications or deletions. In the case of the Factor VIII Intron 22 inversion, MLPA can detect the presence of the inverted intron 22 sequence.
Screening for the Factor VIII Intron 22 inversion mutation is important for accurate diagnosis and genetic counseling of individuals with hemophilia A. It helps identify carriers of the mutation and allows for appropriate management and treatment of the disorder.
| Test Name | Hemophilia A Common Mutation Screening Factor VIII Intron 22 Inversion analysis Test |
|---|---|
| Components | EDTA Vacutainer (2ml) |
| Price | 2400.0 AED |
| Sample Condition | Peripheral blood |
| Report Delivery | 10-11 days |
| Method | End Point PCR |
| Test type | Genetics |
| Doctor | General Physician |
| Test Department: | |
| Pre Test Information | Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion analysis) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
| Test Details |
Hemophilia A is a genetic disorder characterized by the absence or deficiency of clotting factor VIII, which is essential for normal blood clotting. It is caused by various mutations in the F8 gene, which codes for factor VIII. One common mutation in hemophilia A is the Factor VIII Intron 22 inversion. This mutation involves a rearrangement of genetic material within the F8 gene, specifically in intron 22. In normal individuals, intron 22 is located between exons 22 and 23 of the F8 gene. However, in individuals with the Factor VIII Intron 22 inversion, intron 22 is flipped and inserted back into the gene in the opposite orientation. The Factor VIII Intron 22 inversion mutation leads to a disruption in the production of functional factor VIII protein. As a result, affected individuals have reduced or absent factor VIII activity, leading to impaired blood clotting and an increased risk of bleeding. To screen for the Factor VIII Intron 22 inversion mutation, various molecular techniques can be employed. One commonly used method is polymerase chain reaction (PCR), which amplifies specific DNA sequences. In this case, PCR can be used to amplify the region encompassing intron 22 of the F8 gene. The amplified DNA can then be analyzed to determine the presence or absence of the inversion mutation. Other methods, such as multiplex ligation-dependent probe amplification (MLPA), can also be used to detect the Factor VIII Intron 22 inversion. MLPA is a technique that allows for the detection of copy number variations, such as gene duplications or deletions. In the case of the Factor VIII Intron 22 inversion, MLPA can detect the presence of the inverted intron 22 sequence. Screening for the Factor VIII Intron 22 inversion mutation is important for accurate diagnosis and genetic counseling of individuals with hemophilia A. It helps identify carriers of the mutation and allows for appropriate management and treatment of the disorder. |
