Clínic Barcelona. Hospital Universitari

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SMPD1 gene (Niemann-Pick disease type A / B), chorionic villi

Fee code: 16271

Aliases: Niemann-Pick disease type A / B

Method description

PCR and sequencing

Delivery time

28 days

Note to delivery time


Be sure to call ahead for scheduling. Samples should not be frozen. IBC laboratory must receive the samples within 24 hours after collection.

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  
SMPD1 gene (Niemann-Pick disease type A / B)      

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Biomedical Diagnostic Center (CDB)

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