Multiple enzyme defects: multiple hydrolases


Mucolipidosis II / III


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


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