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Clinical Genetics

clinical genetics consultation

In the Sheffield Clinical Genetics Department we see families and individuals at risk and affected by genetic conditions.

The service is based in OPD2 at the Northern General Hospital where we see both adults and children – adults make up two thirds of our total number of patients.


Our department provides many services including:

  • adult-onset genetics
  • cancer genetics
  • Ehlers-Danlos syndrome
  • Huntington’s disease research
  • paediatric genetics
  • prenatal genetics

We see patients from across our local regions including South Yorkshire, North Derbyshire, North Nottinghamshire and South Humberside. Where possible, we also see patients in a clinic near their home.

Adult-onset genetics

Although we are part of a children’s NHS Trust, the Clinical Genetics Service also sees adults with inherited conditions.

These include neurogenetic conditions, inherited cardiac conditions and many other inherited conditions which have an onset in adulthood.

The department is involved in diagnosing the conditions and arranging the appropriate genetic tests to confirm diagnoses.

We explain the nature of the condition, how it is inherited and treated and the options with regard to having a family.

Paediatric genetics

We see patients from birth to adulthood who are suspected of having a genetic cause for their condition.

Each year we have around 1,000 new children referred to us with a wide variety of conditions and around 2,000 new adult referrals.

We see patients with a variety of conditions including:

  • congenital abnormalities
  • development delay
  • learning difficulties
  • specifically diagnosed genetic conditions

Some of our patients have had a diagnosis while others are looking to find out if there is a genetic element to their condition.

When we see children in clinic we gather information about the child and their family. The child will be examined and often photographed and genetic investigations are carried out depending on the patient.

Specialist services

Two of our services, Ehlers-Danlos syndrome and Huntington’s disease, are provided for UK-wide and international patients and we are leaders in these fields.

We are not to be confused with Sheffield Diagnostic Genetics Service who carry out genetic testing for certain conditions and do not see patients.

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