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
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.
Commissioning group
Specialised
Overlapping idications
M245 Ovarian sex cord stromal tumours
Address for samples/request forms
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.