Clínic Barcelona. Hospital Universitari

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Acetyl-CoA:alpha-glucosaminide N-acetyltransferase (Sanfilippo syndrome type C), fibroblasts.

Fee code: 16025

Aliases: Mucopolysaccharidosis type IIIC, Sanfilippo C disease

Method description


Delivery time

90 days

Note to delivery time


Samples should not be frozen. IBC laboratory must receive the samples within 24 hours after collection. Attach brief medical history

Specimen type


Specimen volume

Área de 3 mm2 y 1mm2 de profundidad

Specimen minimum volume

Área de 3 mm2 y 1 mm2 de profundidad

Collection instructions

Skin biopsy of the inside of the forearm previously disinfected with 96ºC alcohol. Place the biopsy in a sealed sterile tube with screw cap and sterile culture medium.

Preanalytic treatment


Transport conditions

At room temperature

Rejection criteria

Frozen specimen, Contaminated specimen


Reference values

Values Units   Age  
Acetyl-CoA:alpha-glucosaminide N-acetyltransferase 50 - 171 nmol/h/mg prot.    

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