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Alpha 1 antitrypsin deficiency: GPs can arrange this genetic testing directly with the laboratory at their local hospital

• carrier testing: we do not offer carrier testing for some conditions, read the Autosomal recessive inheritance and carrier testing letter for patients [docx] 1MB for more information
• Ehlers Danlos Syndrome EDS hypermobility type: in line with national guidance from the Clinical Genetics Society, we are unable to accept referrals for patients with EDS hypermobility type. Use the Genetic referrals for Ehlers Danlos Syndrome EDS [pdf] 1MB as guidance to help distinguish patients needing referral from those with EDS hypermobility type. 
• familial hypercholesterolaemia: referral should be made to your local lipid clinic
• G6PD: please refer to the Sickle cell and thalassaemia centre at Central Middlesex Hospital
• haemochromatosis: GPs can arrange a haemochromatosis genetic test using this form
• haemoglobinopathies: we will accept referral if there are known disease causing gene variants and the couple want to consider pre-implantation genetic diagnosis (PGD), otherwise please refer to the Sickle Cell and Thalassaemia Centre at Central Middlesex Hospital  
• haemophilia: referral should be made to the local haemophilia unit
• infertility: we no longer accept referrals to investigate unexplained infertility which includes karyotyping, cystic fibrosis testing and Y chromosome deletion testing. These investigations can now be carried out by the GP or fertility specialists. We will accept referrals if any abnormalities are found in the genetic investigations.
• isolated arrhythmia/cardiomyopathy: appropriate genetic testing can be arranged by the patient's specialist doctor. We accept referrals to see the patient with their gene test result if further explanation is required, or the patient wishes to discuss the implications of the result for themselves, other family members or their children. We can arrange cascade screening of other family members if appropriate.
• isolated autism: we use the recommended Autism flow chart [pptx] 76KB and the North East Thames Regional Genetics Service parent information leaflet for Great Ormond Street. We no longer accept referrals for children with autism unless they also have:
  • significant dysmorphic features
  • otherwise unexplained developmental delay
  • consanguinity
  • one or more affected siblings
  • microcephaly or macrocephaly (>2 SD from mean)
  • epilepsy
  • neurocutaneous abnormalities
  • a significant abnormality reported on array CGH or other genetic testing
• MTHFR: we do not offer MTHFR testing as it is not indicated in screening for thrombophilia and isn’t offered in the NHS.
• recurrent miscarriages: baseline investigations for couples with recurrent miscarriages are carried out by the obstetrics team. We can accept referrals if an abnormality is identified on the chromosomal/genetic investigations
• thrombophilia: referral should be made to your nearest thrombophilia clinic

We may reject the following referrals if the patient is undergoing further genetic tests or medical assessments:

•  Microarray (detailed chromosome examination): 
  • patients presenting with intellectual deficit, developmental delay, with or without dysmorphism or multiple (more than 3) congenital abnormalities will usually be eligible to have a microarray as a first line investigation
  • if a non-urgent referral is made for genetic investigations for a patient with one or more of the medical problems above, the referral may be rejected pending a discussion about the option of a microarray and the organisation of a microarray by the referring clinician. Complete the blood form to request a microarray test for the genomics laboratory  at Cambridge University Hospitals and Molecular genetics service at Great Ormond Street Hospital for children. The microarray information letter for parents [doc] 129KB can be printed and given to patients. Once a microarray is in process, the referral can be accepted. A genetic referral can still be made should the family decline the option of a microarray following discussion with the referring clinician.
  • In urgent cases, such as new-born infants with a suspected chromosome syndrome, prenatal cases or acutely unwell patients, the referral will be accepted with or without a microarray.
• Possible Marfan syndrome: we will see patients where the possibility of Marfan syndrome or a related connective tissue disorder has been raised. We will take the family and personal history and will examine for systemic features of Marfan syndrome. We will consider other overlapping conditions, and it would be helpful for the patient to have a completed echocardiogram and ophthalmology reviews to rule out any concerns with the eyes. If the patient or a member of the patient’s family has been seen at the Royal Brompton & Harefield Hospital, we can arrange for the patient to be seen at their Connective Tissue Disorders/Aortopathy clinic if required.