For a number of conditions, testing and management is undertaken by other services outside of Medical Genetics. Below we outline these conditions, as well as provide information and signposting for where to refer these patients.
Alpha-1 Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency (AATD) is a common autosomal recessive disorder characterized by a predisposition to emphysema and liver cirrhosis.
Cystic Fibrosis carrier testing
On this page you can find a flowchart outlining the process that GPs should follow when requesting CF carrier testing. We also link to a CF carrier testing patient information leaflet from Cambridge University Hospitals.
Ehlers Danlos Syndrome (EDS)
In keeping with national guidelines, we do not accept referrals for Ehlers-Danlos syndrome (EDS) hypermobility type (also known as EDS type III or benign joint hypermobility syndrome). This is a rheumatological diagnosis made by clinical assessment and there is no genetic test available for this condition. The genetics service do not have a useful role in the diagnosis or management of this condition.
Familial Hypercholesterolaemia (FH)
Familial Hypercholesterolaemia (FH) is an inherited condition causing very high cholesterol levels.
Haematology
Clinical Genomics does not routinely accept referrals for Haemoglobinopathies, Haemophilia and Thrombophilia.
Haemochromatosis
Genetic or hereditary haemochromatosis is a common inherited disorder of iron overload caused by excess absorption of dietary iron. In Northern Europe 95% of genetic haemochromatosis is caused by two common variants in the HFE gene, C282Y and H63D.
Infertility and recurrent miscarriage
East Anglia Clinical Genomics Service referral guidance for infertility and recurrent miscarriage.
MTHFR genetic testing/counselling
This page contains advice regarding the common polymorphisms 677C>T and 1298A >C in the MTHFR gene.