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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old