Please note a rapid access pathway has been developed for patients who are palliative. Please ensure that the patient’s diagnosis and the prognosis are stated clearly on the referral form so that the referral can be triaged appropriately.
For palliative patients, it is advisable to send DNA for storage at the time of the referral. Click here for the test request form. We also have a patient information leaflet on DNA storage.
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Cancer referrals
For guidance on which patients may benefit from referral to the Clinical Genetics service, please see Testing Criteria outlined in the National Genomic Test Directory (PDF document).
Please note, we are also happy to be referred patients who have a historical cancer diagnosis and/or were seen by Clinical Genetics many years ago, as testing criteria and capabilities have changed over time.
See here for more information on cancer genetics, testing and managing results.
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Rare disease referrals
Below we provide some examples of patients who may benefit from a referral to Clinical Genetics. This list in not exhaustive and please feel free to contact us to discuss if in doubt.
Who to refer
- Children with developmental delay and/ or learning difficulties who have additional features (e.g. dysmorphic features, congenital anomalies)*
- Children with multiple congenital anomalies*
- Undiagnosed adults with learning difficulties*
- Parents with ≥2 similarly ‘affected’ children
- The patient has raised a concern about a specific genetic diagnosis
- Individuals affected with a rare disease, who have multiple relatives affected with the same, or a related, disorder.
- You can also refer to the Testing Criteria outlined in the National Genomic Test Directory (PDF document).
*In these circumstances, please consider sending a chromosome analysis by microarray prior to, or at the same time as the referral. Click here for the test request form.
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Miscellaneous conditions
Please follow the links below for further information on referrals relating to these conditions:
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Patients who are UNlikely to benefit from a referral to Clinical Genetics
Please see our section on patients who are UNlikely to benefit from a referral clinical genetics for more information.
This list includes:
- Alpha-1-antitrypsin deficiency
- Cystic fibrosis, including carrier testing
- Haemochromatosis
- Fetal Alcohol Spectrum disorder (FASD)
- MTHR related queries
- Neural tube defects
- Hypermobility spectrum disorder / EDS type 3
- Isolated autism
- Inherited cardiac disorders
- Inherited haematological conditions
- Direct to consumer (DTC) genetic testing
- Couples who have had a previous pregnancy affected with Down syndrome, Edwards syndrome or Patau syndrome.
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Cystic fibrosis
We do not see patients for cystic fibrosis (CF) carrier testing in the Genetics clinic, unless there are additional issues. Non-genetic specialists can request CF carrier testing.
Where both partners are found to be carriers of CF, the couple can be referred to Clinical Genetics to discuss reproductive options.
For more detailed information on CF and understanding CF results please see here.