1. Testing of affected individual (proband) where the individual has one of the following diagnoses:
Pleuropulmonary blastoma or Lung cyst(s) in childhood, especially if multi-septated, multiple or bilateral;
Thoracic, uterine, cervical or ovarian embryonal rhabdomyosarcoma; Cystic nephroma; Genitourinary
sarcoma including undifferentiated sarcoma in childhood; Ovarian Sertoli Leydig tumour;
Gynandroblastoma; Genitourinary/gynaecologic neuroendocrine tumors; Childhood-onset multinodular
goitre or differentiated thyroid cancer (papillary or follicular); Ciliary body medulloepithelioma; Nasal
chondromesenchymal hamartoma; Pineoblastoma; Pituitary blastoma, OR
2. Testing of affected individual where there is a combination of two of the following diagnoses, either both
in one affected individual or in two affected first degree relatives;
Lung cyst(s) in adults; Wilms tumor; Multinodular goiter or differentiated thyroid cancer; Embryonal
rhabdomyosarcoma other than thoracic or gynaecologic; Poorly differentiated neuroendocrine tumour;
Undifferentiated sarcoma; Macrocephaly
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
NOTE: The proband’s cancer and majority of reported cancers in the family should have been confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.