Rare disease tests

To help you, please use tools such as the National Genomic Test Directory to check for available tests and eligibility criteria. You can also find gene panels approved for use within the Genomic Medicine Service (GMS) in PanelApp

Eligibility criteria for genomic tests can be found in the National Genomic Test Directory.

This lists the clinical specialties that would be expected to request for a given clinical indication and sets out which patients should be considered for testing.

All samples for genomic testing should be accompanied by a fully completed request form.

The request form should include as much clinical information about the patient or family member, family relationships and the requested test code (R number). All request forms must indicate either a specific disorder/gene(s) to be investigated or, a request to extract and store DNA.

This form should be used for the majority of test requests.

Please do not download and store this on your desktop or system. The form is regularly updated. Our recommendation is to save or bookmark a link to our website to ensure you are working with the most up-do-date version.

Download the latest version here: GMS Test Order Form v2.3

An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place before testing is requested.

It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing. In submitting a sample with a request form, the clinician confirms that informed consent has been obtained for (a) testing and storage (indefinitely) (b) the use of this sample and the information generated from it to be shared with members of the donor’s family and their health professionals (if appropriate). The patient should be advised that the samples may be used anonymously for quality assurance and training purposes.

If stated as a requirement for a specific test, a record of this discussion must be retained within the patient record when a genomic test is ordered.

For more information please view the Consent and Confidentiality in Genomic Medicine guidelines from the Joint Committee on Medical Genetics.

• Please ensure that the patient’s identity is verified prior to taking the sample.
• Most genomic tests can be performed on peripheral blood samples collected into EDTA tubes.
  • Please send 2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates.
  • For cytogenetic analysis, for example karyotyping of Fluorescent in situ hybridisation, a blood sample in Lithium Heparin (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) is required.
  • Blood samples should be kept at room temperature or at 4oC and not be frozen before dispatch.
  • They should be sent to the SWGLH to arrive within 1-3 days of sample collection.
  • Chorionic villus samples or products of conception should be sent in transport media, if you require this please contact the laboratory.
  • Testing for facioscapulohumeral muscular dystrophy (FSHD) requires a larger volume of blood – minimum of 8ml in an EDTA tube is requested.
• In special circumstances, a saliva sample is acceptable. Please contact the SWGLH for saliva sample collection kit. For other diagnostic material, including extracted DNA (5µg minimum) or paraffin embedded blocks, please contact the SWGLH.
• We recommend that clinicians follow local Trust policy regarding consent for rare disease diagnostic testing.

For a full list of sample requirements and transport guidance, please visit the samples and transport page of the website. 

Turnaround times (TATs) for genomic tests are continually refined through ongoing reviews of testing standards.

Results will be returned to the email account or clinician listed on the request form.

Visit the results and turnaround page for more information.