Test Category: Biochemistry
Investigation Name:Lysosomal Enzymes
Intro:
Assays are typically performed on leucocytes isolated from whole blood collected into EDTA.All samples that are received must be transported to the Biochemical genetics laboratory at Birmingham Children’s Hospital within 24 hours of collection to ensure an optimum yield of cells.
In order for samples to be processed in time, please only send samples Monday-Wednesday, or Thursday before 9am. These samples will make routine transport to Birmingham Children’s Hospital.
The volume of blood required varies according to the number and type of tests requested. For these reasons it is important to contact the laboratory prior to taking the sample. Please contact the Biochemical genetics laboratory on as well as inform the local Duty Biochemist on 01902 695290.
Some enzymes can be measured on plasma or blood spots as an initial screen, but any abnormal result should be confirmed on leucocytes isolated from whole blood. Unless pre-agreed we will test plasma or bloodspots in the first instance.
Requestable Seperately?No
Test Code:AOT
Sample Type:
This depends upon which specific enzymes or tests are being requested, but typically 5-10 mL EDTA whole blood (purple top).Maximum Add on Time:Add-ons are NOT accepted.
Complex Reference Range:Ranges and interpretation is provided on individual reports.
Collection Conditions / Other Information:Samples must be sent to the laboratory immediately after collection. For laboratory staff: EDTA samples must NOT be centrifuged.
Reference Laboratory Details:Biochemical Genetics, Paediatric Laboratory Medicine, Birmingham Children's Hospital NHS Trust, Whittal Street, Birmingham B4 6DH. Tel 0121 333 9942
Referred to Another Laboratory?Yes
Storage Requirements:EDTA samples can be stored overnight at +4°C but DO NOT FREEZE OR SEPARATE.
Further information:NSBG User Handbook:
Lead Contact Details:Clinical advice on which tests: IMD duty biochemist 0121 3339948. Local duty biochemist: 01902 695290.
UKAS Reference Number:9948

