Familial defective apolipoprotein B100 is clinically indistinguishable from familial hypercholesterolaemia. The majority of FDB cases (2-5% of hypercholesterolaemic individuals) have a single ApoB mutation, p.Arg3527Gln.
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Next generation sequencing panel of 4 genes. For additional information please click on the link
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis