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- W1997755665 abstract "DNA analysis and mutation identification is useful for diagnosis of familial hypercholesterolemia (FH) particularly in situations where clinical information is limited such as in the young and because it also provides the opportunity for simple identification of at risk relatives. Mutation screening for FH in our laboratory is currently carried out by initial ARMs analysis of LDLR, ApoB and PSCK9 for a panel of common mutations that account for around 40% of detectable mutations followed by extended screening of LDLR using dHPLC and MLPA analysis. Once the disease causing mutation has been identified in the proband, cascade testing may be offered to other family members. Cascade testing by mutation analysis is preferable to biochemical testing as equivocal results may be obtained for the lipid profile. Studies suggest that 15–20% of relatives may be incorrectly classified based on cholesterol testing alone. Here we present FH families where a pathogenic mutation has been detected in the proband but where subsequent cascade testing has shown that some family members, who fulfil the Simon Broome criteria for either possible or definite FH, do not carry the family mutation. This raises the issue as to whether these patients have FH caused by a different mutation and hence require a full screen themselves or that they may have another primary hyperlipidaemia. It thus appears that there is a need to assess both the lipid phenotype as well as the genotype in managing these at risk individuals." @default.
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- W1997755665 date "2007-09-01" @default.
- W1997755665 modified "2023-10-17" @default.
- W1997755665 title "Are both lipid phenotype and genotype needed for cascade genetic screening in FH families?" @default.
- W1997755665 doi "https://doi.org/10.1016/j.atherosclerosis.2007.04.030" @default.
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