Hemophilia A - Gene Sequencing Test Cost & Procedure

To identify the underlying molecular defect in a patient with a laboratory diagnosis of hemophilia A and to ascertain the carrier status for female patients with a family history of hemophilia A, this test looks for pathogenic mutations within the F8 gene.

How can blood clots occur?

A blood clot is a mass that forms inside a blood vessel and works to stop bleeding by blocking the flow of blood from the vessel.

 The following stages make up the multi-step process of blood clot formation: -

• Vascular Phase: It starts when a blood vessel is damaged, which causes it to constrict.
• The blood's platelets congregate at the site of an injury during the circulating phase.

What is being tested here?

The following tests are included in the hemophilia panel: -

• Time to Prothrombin (PT)
• Time until partial thromboplastin (PTT)

Clotting factors:

Any type of damage results in bleeding, and numerous proteins work together to clot the wound.

Disorders of Bleeding:

Bleeding disorders are illnesses or ailments that interfere with the blood's normal clotting process.

The abnormality of clotting factors may potentially be related to bleeding issues.

What is gene sequencing for hemophilia A?

Hemophilia A - Gene sequencing identifies variations in the F8 gene in patients who have already received a Hemophilia A diagnosis.

• A genetic bleeding illness called hemophilia A causes abnormal blood clotting. The test is additionally employed to detect hemophilia A in fetuses.
• This test identifies hemophilia A-related pathogenic changes in the F8 gene.
• Before testing at-risk individuals, it is advised that the F8 change be confirmed in the afflicted man or obligate carrier female.
• This test enables the early detection of hemophilia A-related pathogenic changes in the F8 gene. Without first identifying a family hemophilia change, regular prenatal genetic testing is not carried out.

Uses:

• Molecular verification of hemophilia A clinical diagnosis in afflicted male patients.
• Determining the F8 gene's causal change for prognostic and genetic counseling purposes.
• Assisting in hemophilia diagnosis For female patients with a familial history of hemophilia A, a carrier status
• Hemophilia A molecular prenatal confirmation