The information on these pages is aimed at healthcare professionals using the East Anglian Medical Genetics Service, covering Cambridgeshire, Peterborough, Norfolk and Suffolk. 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
The information on these pages is aimed at healthcare professionals using the East Anglian Medical Genetics Service, covering Cambridgeshire, Peterborough, Norfolk and Suffolk.
Cystic Fibrosis carrier testing
The information on these pages is aimed at healthcare professionals using the East Anglian Medical Genetics Service, covering Cambridgeshire, Peterborough, Norfolk and Suffolk.
Ehlers Danlos Syndrome (EDS)
Alpha-1 Antitrypsin Deficiency (AATD) is a common autosomal recessive disorder characterized by a predisposition to emphysema and liver cirrhosis.
Familial Hypercholesterolaemia (FH)
The information on these pages is aimed at healthcare professionals using the East Anglian Medical Genetics Service, covering Cambridgeshire, Peterborough, Norfolk and Suffolk.
Haematology
The information on these pages is aimed at healthcare professionals using the East Anglian Medical Genetics Service, covering Cambridgeshire, Peterborough, Norfolk and Suffolk.
Haemochromatosis
The information on these pages is aimed at healthcare professionals using the East Anglian Medical Genetics Service, covering Cambridgeshire, Peterborough, Norfolk and Suffolk.
Infertility and recurrent miscarriage
East Anglian Medical Genetics Service referral guidance for infertility and recurrent miscarriage.
MTHFR genetic testing/counselling
The information on these pages is aimed at healthcare professionals using the East Anglian Medical Genetics Service, covering Cambridgeshire, Peterborough, Norfolk and Suffolk. This page contains advice regarding the common polymorphisms 677C>T and 1298A >C in the MTHFR gene.