Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

DICER1-related cancer predisposition

Clinical Indication ID & Name


DICER1-related cancer predisposition

Test Group

Inherited cancer


Test code


Test name


Target genes


Test scope


Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure


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


Overlapping idications


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


Education resources


Service updates


Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form