Fee code: 16025
Aliases: Mucopolysaccharidosis type IIIC, Sanfilippo C disease
Fluorimetry
90 days
Samples should not be frozen. IBC laboratory must receive the samples within 24 hours after collection. Attach brief medical history
Fibroblasts
Área de 3 mm2 y 1mm2 de profundidad
Área de 3 mm2 y 1 mm2 de profundidad
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.
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At room temperature
Frozen specimen, Contaminated specimen
Values | Units | Age | |||
---|---|---|---|---|---|
Acetyl-CoA:alpha-glucosaminide N-acetyltransferase | 50 - 171 | nmol/h/mg prot. |
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Biomedical Diagnostic Center (CDB)
Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · atencdb(ELIMINAR)@clinic.cat · www.hospitalclinic.org