Clínic Barcelona. Hospital Universitari

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SLC22A5 gene (carnitine transporter deficiency - CUD, OCTN2) - mutation screening, fibroblasts

Fee code: 16327

Method description

PCR and sequencing

Delivery time

Note to delivery time

Consult with laboratory staff


Samples should not be frozen. Attach brief medical history. IBC laboratory must receive the samples within 24 hours after collection. If preferred, 30 µl of frozen RNA or 60 µl of DNA or cDNA at room temperature can be sent instead.

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 de profundidad

Collection instructions

Skin biopsy of the inside of the forearm (hairless area) previously disinfected with 96ºC alcohol (not use any other disinfectant or topical anesthetic). Place the biopsy in a sealed sterile tube with screw cap and sterile culture medium (fetal serum free) or HANKS medium. The sample can also be sent in sterile saline solution, in this case, the laboratory must receive the sample within 24 hours after collection.

Preanalytic treatment


Transport conditions

At room temperature in sterile culture medium.

Rejection criteria

Frozen specimen, Contaminated specimen


Interpretive report of the results

Reference values

Values Units   Age  
SLC22A5 gene (carnitine transporter deficiency) - mutation screening      

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Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · ·