Biochemical Genetics

The Willink Biochemical Genetics Unit provides a unique service aimed at the prevention of mental retardation by the early diagnosis and appropriate management of children and adults affected by inherited biochemical defects. The laboratories are responsible for the region's newborn screening programme as well as a wide range of biochemical and molecular investigations. There is very close liaison between the clinicians and scientists responsible for the service.

Clinical interpretation of results is essential when testing for rare disorders. Clinicians sending samples are contacted personally about their patients when positive or important negative diagnoses are made. Four consultant paediatricians provide a 24-hour on-call service for metabolic patients. Advice regarding investigations is available at all times by contacting the paediatricians, the consultant clinical scientist or other senior scientists in the laboratory via the hospital switchboard on 0161 276 1234.

The laboratory also provides a diagnostic service for the adult lysosomal storage disorder (LSD) clinic situated at Salford Royal Hospital. The clinical service there is led by Dr Steven Waldek, consultant with a special interest in lysosomal storage disorders.

Further information about the tests we offer is available in our Laboratory Handbook.

Contact Details

Telephone: 0161 701 2137
Fax: 0161 701 2303

Director of Laboratories

Dr Lorraine Gaunt