Prenatal Hemophilia A Common Mutation Screening
Test Name: Prenatal Hemophilia A Common Mutation Screening Factor VIII Intron 22 and Intron 1 Inversion analysis Test
Components:
- Sterile container
- Sterile Normal Saline Container
- EDTA Vacutainer (2ml)
Price: 3000.0 AED
Sample Condition: Peripheral blood/Amniotic Fluid/Chorionic villi/Cord blood
Report Delivery: 10-11 days
Method: End Point PCR
Test Type: Genetics
Doctor: General Physician
Test Department:
Pre Test Information: Prenatal Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 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
Prenatal hemophilia A common mutation screening involves analyzing two specific genetic mutations in the factor VIII gene: Intron 22 inversion and Intron 1 inversion. These mutations are the most common causes of severe hemophilia A, a genetic bleeding disorder.
The Intron 22 inversion mutation involves a rearrangement of genetic material within the factor VIII gene. This mutation results in a deficiency or absence of factor VIII, which is essential for blood clotting. Individuals with this mutation typically have severe hemophilia A.
The Intron 1 inversion mutation also leads to a deficiency or absence of factor VIII. This mutation involves a similar rearrangement of genetic material within the factor VIII gene, but in a different region. Like the Intron 22 inversion mutation, individuals with this mutation usually have severe hemophilia A.
Prenatal screening for these common mutations can be performed during pregnancy to determine if the fetus is at risk of inheriting hemophilia A. This screening is typically recommended for couples with a family history of hemophilia A or for carriers of the mutation.
The screening process involves obtaining a sample of fetal DNA, usually through chorionic villus sampling (CVS) or amniocentesis. The DNA is then analyzed using specific techniques, such as polymerase chain reaction (PCR) or multiplex ligation-dependent probe amplification (MLPA), to detect the presence of the Intron 22 and Intron 1 inversions.
If the mutations are detected in the fetus, it indicates that the child is at risk of inheriting hemophilia A. This information can be used to provide appropriate medical management and counseling for the parents.
It is important to note that prenatal screening for hemophilia A mutations is not routinely performed for all pregnancies. It is typically reserved for couples with a known risk or family history of the condition. Genetic counseling is recommended for couples considering prenatal screening to fully understand the implications and options available.
| Test Name | Prenatal Hemophilia A Common Mutation Screening Factor VIII Intron 22 and Intron 1 Inversion analysis Test |
|---|---|
| Components | Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml) |
| Price | 3000.0 AED |
| Sample Condition | Peripheral blood\/Amniotic Fluid\/ Chorionic villi\/ Cord blood |
| Report Delivery | 10-11 days |
| Method | End Point PCR |
| Test type | Genetics |
| Doctor | General Physician |
| Test Department: | |
| Pre Test Information | Prenatal Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 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 | Prenatal hemophilia A common mutation screening involves analyzing two specific genetic mutations in the factor VIII gene: Intron 22 inversion and Intron 1 inversion. These mutations are the most common causes of severe hemophilia A, a genetic bleeding disorder. The Intron 22 inversion mutation involves a rearrangement of genetic material within the factor VIII gene. This mutation results in a deficiency or absence of factor VIII, which is essential for blood clotting. Individuals with this mutation typically have severe hemophilia A. The Intron 1 inversion mutation also leads to a deficiency or absence of factor VIII. This mutation involves a similar rearrangement of genetic material within the factor VIII gene, but in a different region. Like the Intron 22 inversion mutation, individuals with this mutation usually have severe hemophilia A. Prenatal screening for these common mutations can be performed during pregnancy to determine if the fetus is at risk of inheriting hemophilia A. This screening is typically recommended for couples with a family history of hemophilia A or for carriers of the mutation. The screening process involves obtaining a sample of fetal DNA, usually through chorionic villus sampling (CVS) or amniocentesis. The DNA is then analyzed using specific techniques, such as polymerase chain reaction (PCR) or multiplex ligation-dependent probe amplification (MLPA), to detect the presence of the Intron 22 and Intron 1 inversions. If the mutations are detected in the fetus, it indicates that the child is at risk of inheriting hemophilia A. This information can be used to provide appropriate medical management and counseling for the parents. It is important to note that prenatal screening for hemophilia A mutations is not routinely performed for all pregnancies. It is typically reserved for couples with a known risk or family history of the condition. Genetic counseling is recommended for couples considering prenatal screening to fully understand the implications and options available. |
