Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion Analysis) in UAE | 1600 AED

The Factor VIII Intron 22 Inversion is a large structural rearrangement within the F8 gene where intron 22 undergoes an inversion that disrupts the coding sequence, abolishing functional Factor VIII protein production. This mutation accounts for approximately 45% of all severe Hemophilia A cases worldwide. Clinicians order this test to confirm a molecular diagnosis in patients with severely reduced Factor VIII activity (<1%), to identify asymptomatic female carriers within affected families, and to enable informed reproductive decision-making including preimplantation genetic diagnosis. A positive result establishes the genetic etiology definitively, while a negative result directs further investigation toward other F8 mutations via sequencing or multiplex ligation-dependent probe amplification (MLPA).

A peripheral whole blood sample is collected via our VIP mobile phlebotomy service with temperature-controlled cold-chain logistics. Our trained phlebotomy team visits your location between 8 AM and 11 PM, performs a standard venipuncture using a vacuum-sealed EDTA tube, and immediately transfers the specimen under controlled cold-chain conditions (2–8°C) to our molecular diagnostics laboratory. Results are delivered within 10 to 11 working days. This turnaround time reflects the comprehensive multistep workflow: genomic DNA extraction, quality assessment, endpoint PCR amplification across the Intron 22 breakpoint region, gel electrophoresis resolution, and dual independent verification by certified molecular geneticists before the final report is issued through our secure online patient portal.

Yes, a valid prescription from a DHA-licensed physician is mandatory for this molecular genetic test. All genetic investigations in the UAE require a referral from a licensed medical practitioner to ensure appropriate pre-test counseling, clinical indication validation, and post-test result interpretation within a supervised care pathway. Exceptions apply when the test is requested as part of a preoperative clearance protocol, antenatal diagnostic workup coordinated by an obstetrician, or mandatory health screening for visa and travel purposes — in these specific scenarios, the ordering facility assumes clinical oversight responsibility. For all other cases, please upload your prescription via WhatsApp at +971 54 548 8731 during the booking process.

A positive result confirms the presence of the Intron 22 inversion mutation, establishing a definitive molecular diagnosis of severe Hemophilia A in a male proband. For female relatives, a positive result indicates carrier status with a 50% risk of transmitting the mutation to each offspring. A negative result does not completely rule out Hemophilia A; it indicates that the Intron 22 inversion is not present, and further genetic testing (F8 gene sequencing or MLPA) may be warranted if clinical suspicion remains high. In either scenario, genetic counseling is strongly recommended to discuss the implications for the patient, at-risk family members, and reproductive planning options including prenatal diagnosis and preimplantation genetic testing.