Referral Requirements

Cytogenetics referral form

A fully completed genetic testing referral card should accompany each sample. These should be legible and fully completed with all relevant information, including:

• Patient name 
• Date of birth
• Address and post code
• NHS number
• Hospital number
• Referring consultant (surname in full) department and referral centre* (where the report is to be addressed)
• Referring doctor’s contact telephone number
• GP/GP code and GP practice/practice code
• Relevant clinical details and test(s) required. This may include names and other clinical information of relevant family members. See specific test type pages under Services and Tests.
• Sample type
• Identity of person taking the sample and date of sample collection
• The urgency of a sample together with reasons for that urgency
• For prenatal or abortus samples please indicate gestational age
• If a sample is a known infection risk please ensure this is recorded on the referral card. Indicate the risk with as much detail as possible and contact the department in advance. See High Risk Samples page for containment levels.

Please follow the link for the Laboratory Genetics Referral Card or GLH Rare and Inherited Disease referral form. 

*Clearly stating the referring clinician and the referral centre is necessary to ensure the resulting report is sent to the correct location. Failure to provide this information may delay testing or result in the report being sent to the incorrect location. This information is also essential to ensure that referral centres are invoiced for the correct tests.

Sample requirements

Please see the sample specific webpages, under Services and Tests. 

All samples should be labelled with at least three patient identifiers. These should include:

• Patient name 
• Date of birth
• NHS number
• Hospital number

The sample should also state the date of collection and be accompanied by a completed referral card. Referrals should be sent to the Cytogenetics department on the same/next working day depending on sample type, please refer to the relevant sample type page within this website. For sample transport information including storage before dispatch please refer to Transportation of samples.

For specific sample requirements please see the appropriate page under services and tests.

If the sample or referral card is inadequately labelled it may lead to rejection of the sample. For referrals that are not easily repeatable and are not adequately labelled, or are suboptimal*, processing may be attempted. The final report will include an explanation of the labelling of the sample and referral card on receipt in the laboratory. Samples in the wrong tube may be rejected, please see services and tests for specific sample type acceptance and rejection criteria.

High risk samples will be rejected if they cannot be handled at our containment level. See high risk samples page for containment levels.

Please note that the laboratory is unable to accept blood samples or saliva samples from patients for rare disease testing who have received an allogeneic bone marrow transplant (BMT), due to the presence of donor DNA. In these patients, a buccal swab sample or a skin biopsy should be referred. Please contact the laboratory for further advice on sample requirements.

*Suboptimal may include small samples, those delayed in transit, those not stored correctly and specimens received in the wrong container.

 

Reactivation of samples are required in writing, either by sending a new referral form to the department clearly marking it as a reactivation of a sample held in the laboratory or by email to NUHNT.cytogenetics@nhs.net with 3 patient identifiers. Please include the reason for reactivation with as much detail as possible.

In submitting a sample, the clinician confirms that consent has been taken for cytogenetic testing and possible storage. Please see the reverse of the Laboratory Genetics Referral Card for consent requirements.

Page last updated 24/02/2026. Please note that if printed, this information is only valid on the day of printing.