Invoice

Detection of one or more variants of a single gene known to cause heritable kidney disease, for the purpose of reproductive decision making, if: (a) the detection is requested by a consultant physician practising as: (i) a clinical geneticist; or (ii) a specialist nephrologist; and (b) the patient is the reproductive partner of an individual known to be a carrier of a pathogenic variant that causes heritable kidney disease that has a recessive mode of inheritance; and (c) a service described in item 73401, 73402, 73403 or 73404 has identified the causative gene for the patient’s partner; and (d) the detection test methodology has sufficient diagnostic range and sensitivity to detect at least 95% of pathogenic variants likely to be present in the patient