https://www.gosh.nhs.uk/wards-and-departments/departments/laboratory-medicine/laboratory-database/multiple-enzyme-defects-multiple-hydrolases/
Multiple enzyme defects: multiple hydrolases
EPIC
Mucolipidosis II / III
Section
Chemical Pathology - Enzyme
Clinical indications
For the diagnosis of mucolipidosis II / III, a disorder that invovles defects of multiple hydrolases
Specimen requirement
1. 5 - 10 mL lithium heparin whole blood or
2. Cultured fibroblasts
Dispatch and handling instructions
1. Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection
2. Send flask completely filled with medium at room temperature a in well insulated container. To reach lab ideally within 24 hours
Turnaround time
1. 4 to 6 weeks
2. 4 to 6 weeks
Synonym
I-Cell disease, Inclusion cell disease ML II, ML III, Mucolipidosis type II, Mucolipidosis type III, Pseudo Hurler / Pseudo-Hurler, UDP-N-acetylglucoseamine-1-phosphotransferase
Is it IS0 15189 accredited?
1. Yes
2. Yes