α-iduronidase

EPIC

MPS I

Section

Chemical Pathology - Enzyme

Clinical indications

For the diagnosis of MPS Type I. Lysosomal α-iduronidase is deficient in leucocytes, cultured cells and tissues in cases of MPS Type I

Specimen requirement

1. 5 - 10 mL lithium heparin whole blood or

2. Cultured fibroblasts or

3. Cultured chorionic villi or

4. Cultured amniotic cells or

5. Chorionic villi

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

3. Contact the Enzyme Laboratory PRIOR to sampling and shipping

4. Contact the Enzyme Laboratory PRIOR to sampling and shipping

5. Contact the Enzyme Laboratory PRIOR to sampling and shipping

Turnaround time

1. 4 to 6 weeks

2. 4 to 6 weeks

3. As soon as practically possible

4. As soon as practically possible

5. As soon as practically possible

Synonym

Mucopolysaccharidosis Type I, MPS I, Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome

Is it IS0 15189 accredited?

1. Yes

2. Yes

3. Yes

4. Yes

5. Yes