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.
Diagnostic cancer genetic testing (inherited cancers)
The eligibility criteria for diagnostic cancer genetic testing have significantly broadened in recent years, which has many benefits for patients and clinicians. But it also means that the East Anglia Clinical Genetics Service (CGS) no longer has the capacity to facilitate this type of test, and is instead supporting cancer teams to do this testing themselves.
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.