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Biochemistry (referred to external laboratory):
Stoke & County Hospitals samples analysed at – Newborn Screening & Biochemical Genetics, Paediatric Laboratory Medicine, Birmingham Children's Hospital, Whittall Street, Birmingham, B4 6DH.
Leighton & Macclesfield Hospitals samples analysed at - Willink Biochemical Genetics Laboratory, Genomic Diagnostic Laboratories, Manchester Centre for Genomic Medicine, 6th Floor, Pod 1, St Mary's Hospital, Oxford Road, Manchester, M13 9WL.
Add-on requests: N/A
Minimum Retest Interval: N/A
Spot urine sample collected into a plain white-top universal tube. A repeat sample may be requested if sample is very small or dilute.
The preferred sample type for investigating primary amino acid disorders is plasma.
Samples should be sent to the laboratory on the same day as collection to ensure sample integrity is maintained. If a delay in receipt of the sample is anticipated, please contact the laboratory to discuss storage requirements.
For generic information on test requesting, sample labelling and packaging, and sample transport – see the frequently asked questions here.
Adult and paediatric sample type:
Based on receipt at testing site.
Within 8 weeks
Qualitative test – reference ranges not supplied. Where required, interpretative comments provided by the external referral laboratory may be added to reports alongside results.
Results outside the reference range do not necessarily indicate disease. Similarly, results within the reference range do not preclude abnormality. Please contact the Duty Biochemist for discussion of individual patient results.
Investigation of inherited metabolic disease in paediatric patients, especially amino acid disorders and urea cycle defects.
Factors that significantly affect result
There are a number of non-pathological factors that can influence levels of specific analytes, giving falsely elevated or reduced levels. If you require more information regarding the effects of these factors on the individual test results, please contact the Duty Biochemist.
For tests performed at an external referral laboratory, consider contacting the performing laboratory directly for specialist advice on the interpretation of results.
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Reviewed / Updated On: 02/12/2025
