Clínic Barcelona. Hospital Universitari

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SLC22A5 gene (carnitine transporter deficiency - CUD, OCTN2), chorionic villi

Fee code: 16279

Method description

PCR and sequencing

Delivery time

15 days

Note to delivery time


Indispensable prior consultation. Do not freeze the sample. Samples must be received by the IBC within 24 hours after collection. You can also submit 30 microliters of DNA at room temperature. Attach medical records.

Specimen type

Chorionic villi

Specimen volume

30 mg

Specimen minimum volume

20 mg

Collection instructions

Carefully separate the maternal decidua and submerge the biopsy in sterile culture medium

Preanalytic treatment


Transport conditions

At room temperature

Rejection criteria

Frozen specimen, Contaminated specimen


Interpretive report of the results

Reference values

Values Units   Age  
SLC22A5 gene (carnitine transporter deficiency)      

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Biomedical Diagnostic Center (CDB)

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