Hemophilia B - Gene Sequencing Test Cost & Procedure

Due to mutations in the F9 gene, hemophilia B is characterized by low blood coagulation factor IX (FIX) activity. When functioning human F9 genes are delivered into hepatocytes using nonpathogenic adeno-associated virus (AAV) vectors, gene therapy provides a possibly curative method to reach and maintain therapeutic FIX levels.

The blood clotting process is slowed down by hemophilia, a bleeding disorder. Following an injury, surgery, or tooth extraction, individuals with this syndrome have protracted bleeding or oozing. Continuous bleeding happens after minimal trauma or even when there is no evident injury in severe hemophilia sufferers (sometimes called spontaneous bleeding). Bleeding into the muscles, brain, joints, or other internal organs can lead to serious consequences. Hemophilia is a condition that can cause irregular bleeding after surgery or a serious injury, however milder variants of the disease may not always cause spontaneous bleeding.

Frequency

The frequency has increased.

Males than females are far more likely to have one of the two main types of hemophilia. The most prevalent form of the ailment is hemophilia A, which affects 1 in 4,000 to 1 in 5,000 males globally at birth. Around the world, 1 in 20,000 newborn boys has hemophilia B.

Useful for

Clinical diagnosis of hemophilia B in afflicted male patients: molecular confirmation

determining the F9 gene's causal change for prognostic and genetic counseling purposes

assisting female patients with a family past  of hemophilia B in learning whether they are carriers of the disorder

Molecular prenatal verification of hemophilia B

Genetics test information

To determine the underlying molecular defect in an individual with a laboratory determination of hemophilia B and to verify the carrier status for ladies with a family past of hemophilia B, this examination looks for pathogenic mutations within the F9 gene. The prenatal diagnosis and confirmation of hemophilia B in a male fetus at risk of inheriting the condition may also be accomplished with this test. Except in extremely rare circumstances where the fetus is known to be at risk of acquiring a pathogenic F9 mutation from both parents, diagnostic prenatal genetic testing for female fetuses is often medically unnecessary and not carried out.

Key Points

Patients with hemophilia B experienced FIX expression following gene therapy using AAV8 codon-optimized human FIX Padua supplementary DNA.

Only one individual was able to maintain transgenic expression, and this was likely hampered by proinflammatory reactions mediated by the vector.