Month: August 2024

  • What is an index case and what is cascade testing?

    In the context of Familial Hypercholesterolaemia (FH), the Index case is the first person in a family branch to be genetically diagnosed with the condition. The genetic test will have revealed the mutation/variant present in one of the four genes that typically cause FH for that person. The Index case’s genetic test is the first…

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