N-acetyltransferase

EPIC

MPS IIIC

Section

Chemical Pathology - Enzyme

Clinical indications

For the diagnosis of MPS Type IIIC. The lysosomal enzyme acetyl-CoA:D glucosamine N-acetyltransferase is deficient in leucocytes and cultured cells in cases of Mucopolysaccharidosis Type IIIC

Specimen requirement

1. 5 - 10 mL lithium heparin whole blood or

2. Cultured fibroblasts or

3. Chorionic villi or

4. Cultured chorionic villi or

5. Cultured amniotic cells

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 IIIC, MPS Type IIIC acetyl-CoA:D glucosamine N-acetyltransferase, Sanfilippo C, Sanfilippo C syndrome

Is it IS0 15189 accredited?

1. Yes

2. Yes

3. Yes

4. Yes

5. Yes