Clinical Indication ID & Name
DICER1-related cancer predisposition
Test Group
Inherited cancer
Specialties
Test code
R364.1
Test name
N/A
Target genes
DICER1
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
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
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
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form