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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

Physician:

Laura Gort Mas

Laboratory:

> Biochemistry and Molecular Genetics Department

Method description

Fluorimetry

Delivery time

90 days

Note to delivery time

Requisites

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

Specimen type

Fibroblasts

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

Results

Reference values

	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