Clínic Barcelona. Hospital Universitari

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

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. Instead of amniotic fluid, a confluent culture of amniocytes can also be sent.

Specimen type

Amniotic fluid

Specimen volume

15 - 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  
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 · ·