Rare Disease Referrals

• Anyone in receipt of a ‘dear family member’ or ‘to whom it may concern’ letter from a Clinical Genetics service. Please include a copy of this letter with the referral. 
• Anyone with a family history of Huntington Disease unless their parent has tested negative. Ideally please include the name and dob of an affected family member.
• Anyone with a family history of an autosomal dominant disorder in whose family a mutation is known. Ideally please include the name and dob of an affected family member.
  • Please note it is very rare that it is possible to offer primary genetic testing in an unaffected individual where there is a family history of a genetic condition, but the causative genetic variant is unknown. In almost all circumstances we must test a known affected individual first.
  • Conditions such as Neurofibromatosis type 1, in which a clear phenotype is visible on examination are suitable for referral even in the absence of a known genetic variant.
  • We do not offer predictive testing in children for adult-onset disorders. Any child at 50% risk of an adult-onset disorder who is showing possible signs of the condition should be referred to the appropriate paediatric specialist (for example Paediatric Neurology in the case of Charcot Marie Tooth) for assessment and diagnostic testing if deemed suitable.
• Any pregnant woman with a known family history of a genetic disorder who wants to consider tests in pregnancy or immediately after birth. Even if a formal diagnosis has not yet been made in the affected individual, it may be possible to offer advice and testing. 

• Anyone with an identified genetic variant causing their (or their child’s) condition, who wishes to discuss recurrence risks, familial testing and other subjects outside of the management of the diagnosis.
• Anyone requiring genetic testing which is not available to the referrer (consult the Rare Disease Test Directory for further information).
• Individuals with a genomic variant whose significance is unclear, and whose genomic report recommends referral to clinical genetics for further assessment – please include a copy of that report.
• Individuals with a complex genomic report or incidental finding, and whose genomic report recommends referral to clinical genetics for further assessment – please include a copy of that report.
• A patient with multiple congenital anomalies and/or dysmorphic features a CGH-microarray result should first be obtained.
• Any acutely ill child (on ICU/HDU) who is likely to have a genetic diagnosis, and in whom testing may alter treatment decisions.

• Patients who live outside of the Cheshire and Merseyside region – these will be forwarded to their local genetics service unless there is a specific reason (stated in the referral) why they should be seen at LCGM.
• Cardiac disorders in adults – either affected or at risk – these referrals should be made to the Inherited Cardiac Conditions team at Liverpool Heart and Chest. This team includes Consultant Cardiologists, Consultant Clinical Geneticists and Genetic Counsellors, so genetic testing and cardiac screening can be offered as appropriate.
• Adults affected with likely genetic neurological disorders – these referrals should be made to Dr Jenny Higgs, Consultant in Clinical Genetics at Walton Hospital.
• Haematological genetic disorders including haemoglobinopathies, clotting disorders, thrombotic disorders – these are looked after by Haematology departments, and a referral should be directed either to the Roald Dahl Service at the Royal Liverpool Hospital, or the Haematology service at Alder Hey Children’s Hospital. This includes carrier testing and prenatal testing.
• Individuals with a likely diagnosis of Hypermobility Syndrome (sometimes called Hypermobile Ehlers Danlos Syndrome) for further information on this condition and available resources (support is available at EDS UK). 
• Patients in who there is a concern about Marfan syndrome should have an echocardiogram prior to referral to Genetics. If the echocardiogram is normal, be aware the chance of Marfan syndrome is low and a significant phenotype would be required for the referral to be accepted.
• Patients whose report recommends parental testing, please organise this yourself.

• Individuals with a family history of relatively common genetic conditions including Haemochromatosis, Alpha-one-antitrypsin deficiency, cystic fibrosis, whose testing should be performed by the GP.
• Individuals in possession of a Direct To Consumer (DTC) test report suggesting they may have a genetic disorder. Unless the personal and family history would satisfy the NHS testing criteria for the particular condition and/or the Genomics referral criteria, guidance is that the individual will need to consult a private geneticist for advice.
• Individuals with a personal or family history of Familial Hypercholesterolaemia. At present there is no specific FH service in Cheshire and Merseyside, but this is being established. In the meantime, the patient should be referred to your local lipid clinic for assessment.

• Referrals for genetic testing to confirm or investigate a clinical diagnosis made in secondary care, which the secondary care physician is permitted to arrange - consult the Rare Disease Test Directory for further information.
• Children with autism, who are not dysmorphic and have no congenital anomalies – Paediatrics and Community paediatrics are able to request the appropriate genomic testing.
• Children with a suspected diagnosis of Fetal Alcohol Spectrum Disorder. All children should be reviewed by a Consultant Community Paediatrician, and a CGH-microarray performed. Only those in whom there is concern about a possible diagnosis other than FASD should be referred to genetics for assessment.