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Characterisation of germline gene variants, including copy number variation, in the MLH1, MSH2, MSH6, PMS2 and EPCAM genes, requested by a specialist or consultant physician, for:

(a) a patient with suspected Lynch syndrome following immunohistochemical examination of neoplastic tissue that has demonstrated loss of expression of one or more mismatch repair proteins; or

(b) a patient:

(i) who has endometrial cancer; and

(ii) who is assessed by the specialist or consultant physician as being at a risk of more than 10% of having Lynch syndrome, on the basis of clinical and family history criteria

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,101.30

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