Clínic Barcelona. Hospital Universitari

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Deuterated palmitate oxidation (mitochondrial beta-oxidation deficiencies), fibroblasts

Fee code: 16094

Method description

Triple quadrupole mass spectrometry (HPLC-EM/EM)

Delivery time

90 days

Note to delivery time

Requisites

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

Specimen type

Skin biopsy (for fibroblast culture)

Specimen volume

Área de 3 mm2 y 1 mm de profundidad

Specimen minimum volume

Área de 3 mm2 y 1 mm 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  
C6DC 0 - 0,11 pmol/mg prot.    
C12:1 0 - 4,83 pmol/mg prot.    
C12 14,04 - 43,61 pmol/mg prot.    
C8DC 0 - 0,60 pmol/mg prot.    
C14:2 0 - 0 pmol/mg prot.    
C14:1 0 - 0,05 pmol/mg prot.    
C14 0 - 3,58 pmol/mg prot.    
C14:1-OH 0 - 0 pmol/mg prot.    
C14-OH 0 - 0 pmol/mg prot.    
C4 14,11 - 48,94 pmol/mg prot.    
C10DC 0 - 0,15 pmol/mg prot.    
C16:1 0 - 3,57 pmol/mg prot.    
C16 13,11 - 68,39 pmol/mg prot.    
C16:1-OH 0 - 0,34 pmol/mg prot.    
C16-OH 0 - 0,43 pmol/mg prot.    
C16DC 0 - 0,37 pmol/mg prot.    
C4-OH 0 - 2,87 pmol/mg prot.    
C6 19,18 - 60,72 pmol/mg prot.    
C8 18,55 - 78,28 pmol/mg prot.    
C10:2 0 - 0,25 pmol/mg prot.    
C10:1 0 - 0,65 pmol/mg prot.    
C10 20,27 - 102,80 pmol/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 · · www.hospitalclinic.org