MLPA assay in F8 gene mutation screening

Deletions and duplications in the factor VIII gene identified using multiplex ligation‐dependent probe amplification

“…MLPA confirmed deletions of exons 1, 1-6, 6 and 25 in families 1-4, respectively. All of these deletions have been previously reported to be associated with a severe phenotype [4,8], although as the breakpoints of the mutations identified have not been determined, it is not known whether they are exactly the same as those previously reported. Large deletions therefore make up about 1% of the mutations identified in our patient cohort.…”

Detection of New Deletions in a Group of Italian Patients with Hemophilia A by Multiplex Ligation–Dependent Probe Amplification

“…Moreover, the carrier status can easily be identified, allowing for the investigation in females who are noninformative for F8 intragenic polymorphisms. Finally, MLPA may be applied also to prenatal diagnosis (Aquila et al, 2008).…”

“…After ligation at 548C for 15 min, the samples were amplified on a thermal cycler. One and a half microliter of PCR products was mixed with 0.3 mL of ROX-500-labeled internal size standard (Aquila et al, 2008).…”

Performance of next‐generation sequencing in the detection of large exon deletion in patients of haemophilia A

“…Moreover, variant or polymorphism in the sequence detected by a probe may result in false positive in MLPA test. Finally, each MLPA experiment required two or three normal subjects to produce the reference signal for calculation 13. Next-generation sequencing has been widely used in the de-…”