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Hemophilia A Common Mutation Screening Factor VIII Intron 22 Inversion Analysis Test Cost

Original price was: 3,200 د.إ.Current price is: 2,400 د.إ.

-25%

The “Hemophilia A Common Mutation Screening Factor VIII Intron 22 Inversion Analysis Test” is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify the most prevalent genetic mutation associated with Hemophilia A. This condition, a bleeding disorder caused by a deficiency of clotting Factor VIII, often results from a specific inversion mutation within intron 22 of the Factor VIII gene. The test is crucial for accurate diagnosis, enabling targeted treatment and management strategies for affected individuals. Priced at 2400 AED, this test represents a vital tool in the genetic analysis of Hemophilia A, providing essential information for patients, their families, and healthcare providers on the underlying genetic cause of the disorder. Through a detailed examination of the patient’s DNA, this test can effectively confirm the presence of the inversion mutation, guiding decisions on prophylactic treatments and potentially improving the quality of life for those with Hemophilia A.

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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.

SKU: TEST-4799 Category:

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