Clínic Barcelona. Hospital Universitari

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SLC25A20 gene (carnitine-acylcarnitine translocase deficiency - CACT), amniocytes

Fee code: 16278

Method description

PCR and sequencing

Delivery time

28 days

Note to delivery time


Indispensable prior consultation. Do not freeze the sample. Sample must be received at the IBC within 24 hours after collection. It can also send a confluent culture of amniocytes or 30 microliters of DNA at room temperature. Attach medical records.

Specimen type

Amniotic fluid

Specimen volume

20 mL

Specimen minimum volume

15 mL

Collection instructions

Puncture under sterile conditions

Preanalytic treatment


Transport conditions

At room temperature

Rejection criteria

Frozen specimen, Contaminated specimen


Interpretive report of the results

Reference values

Values Units   Age  
SLC25A20 gene (CACT 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 · ·