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Wednesday 24 July 2019
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Pathology labs

Diagnosis

The inheritance of the disorders could be autosomal recessive, X- linked or autosomal dominant. It can be a lengthy process to confirm a diagnosis of rare inherited metabolic disease and can take up to several months depending on the test. 


Extensive investigations may be required, such as specialist blood and urine tests, genetic tests, x-rays, scans and biopsies where indicated. A biopsy is where a small amount of tissue is sampled usually under the cover of a local anaesthetic and then examined in detail in the laboratory. Sometimes the samples and biopsy material may need to be exported to outside hospitals in the UK or abroad for biochemical and genetic testing. We will ask for you permission to do this. 


On some occassions in spite of all the advanced investigations it  still may not be possible to confirm a diagnosis, at this stage we will discuss your fututre, this may mean that you need to be referred on to other services, be discharged from our service, stay under the care of our service or participate in possible research.