Whole F8 PCR-amplification, detection of large deletions in hemizygous Probands and direct analysis of F8 exon 13 duplication (Dup13)

MARCHIONE, VANINA DANIELA; RADIC CLAUDIA PAMELA; ROSSETTI, LILIANA CARMEN

World Federation for Hemophilia Genetics Laboratory manual.

World Federation of Hemophilia

Año: 2022;

The analysis of small variants on all relevant sequences of the F8 (including the promoter region, all exonic-coding sequences (26 exons) and intronic sequences associated with splicing) represented in 38 PCR products, should be performed from genomic DNA samples of severe/moderate-borderline Hemophilia A (HA) probands (FVIII:C 40 bp) were designed to optimize the sensitivity of the screening by CSGE. Early genotypic characterization of the pathogenic variant in a family with hemophilia constitutes essential information for designing patient-specific treatment and follow-up regimes, and provides the most reliable data for genetic counselling of the affected family including carrier detection and all type of approaches for prenatal diagnosis.