Test name: (for UKGTN administration to complete)
Approved name and symbol of disorder/condition(s):
If a panel test please complete Testing Criteria appendix 1 / OMIM number(s):
Approved name and symbol of gene(s):
If a panel test please complete Testing Criteria appendix 2 / OMIM number(s):
Patient name: / Date of birth:
Patient postcode: / NHS number:
Name of referrer:
Title/Position: / Lab ID:
Referrals will only be accepted from one of the following:
Note for completion: please list the types of referrers for appropriate requests for testing (e.g. consultant clinical geneticists, consultant paediatric neurologists etc).
Referrer / Tick if this refers to you.
Minimum criteria required for testing to be appropriate as stated in the Gene Dossier:
Note for completion: please insert the criteria for testing e.g. list clinical symptoms and other investigations that would be expected to have been carried out prior to the DNA test and the results required to make the referral appropriate. Please specify the relationship between criteria using keywords e.g. and, or, at least N of the following. Please do not use acronyms. Examples to help in the completion of this are available on the UKGTN website. The boxes can be expanded and rows can be added.
Criteria / Tick if this patient meets criteria
At risk family members where familial mutation is known.
(delete if not applicable)
Additional Information:
For panel tests: If a specific pro forma is required to be completed, please attach it. The Testing Criteria for panel tests should be per clinical phenotype.
At risk family members where familial mutation is known do not require a full panel test but should be offered analysis of the known mutation
(delete if the test is not a panel test)
If the sample does not fulfil the clinical criteria or you are not one of the specified types of referrer and you still feel that testing should be performed please contact the laboratory to discuss testing of the sample.
Appendix 1(this will be included in the Testing Criteria when published)
Genes in panel test and associated conditions (please expand table if required).
UKGTN website users will be advised to refer to the Testing Criteria for this full list of genes and disorders.
Please highlight all rows where the gene is currently be fully analysed in the context of a single separate UKGTN test
HGNC standard name and symbol of the gene / HGNCnumber / OMIM
number / OMIM standard name of condition and symbol / Mode
of
inheritance / OMIM
number / Evidence of association between gene(s) and condition / % of horizontal coverage of gene / MLPA / Comments