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Genetic Testing Assistant

LDL-C Estimator

Welcome to the FH Web Tools. We hope that you will find our genetic testing assistant and LDL-C estimator tool helpful in making decisions regarding genetic testing for FH.

The Wales FH service use scoring criteria for selection of adult patients for FH genetic testing. These are a modification of the Dutch Lipid Clinic Network scoring criteria.

In Wales, the recommendations are that patients scoring six or above are eligible for genetic testing, with lower scoring patients only tested in special clinical circumstances.

The criteria have been demonstrated to be effective in clinical practice for joint decision making about genetic testing for FH (Haralambos et al., 2015). The criteria have been developed into a web tool and further modifications have been made including adjusting for patient age (Ashfield-Watt PA et al, 2016; Haralambos et al., 2016). This compensates for the observation that LDL-C increases with age.

The current version of the tool has been constructed to compare the original and the revised age adjusted versions of the criteria. Therefore, the output presents 2 scores. A score of 6 or above on either version will yield a recommendation that genetic testing is undertaken.

These criteria are designed to be used in hyperlipidaemic index patients where there is a clinical suspicion of FH, and not for relatives of FH patients or normolipidaemic individuals.

If you need any support please contact Kate Haralambos ( or Pauline Ashfield-Watt ( for clinical queries or Ben Sharif ( for technical queries.