Familial hypercholesterolaemia is an autosomal dominant condition, characterised clinically by elevations in low-density lipoprotein cholesterol, tendon xanthomata and premature coronary heart disease.
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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
Disease / group
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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