Clínic Barcelona. Hospital Universitari

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SMPD1 gene (Niemann-Pick disease type A / B) - specific mutation, whole blood

Fee code: 16270

Aliases: Niemann-Pick disease type A / B

Method description

PCR and sequencing

Delivery time

30 days

Note to delivery time


It is recommended to enclose the clinical report with the biochemical confirmation of the disease.

Specimen type

Whole blood (anticoagulant: EDTA) or DNA

Specimen volume

10 mL

Specimen minimum volume

3 mL

Collection instructions


Preanalytic treatment


Transport conditions

At room temperature if the arrival to the laboratory within 48 hours is guaranteed. Otherwise, keep in fridge for a week maximum.

Rejection criteria

Clotted sample


Interpretive report of the results

Reference values

Values Units   Age  
SMPD1 gene (Niemann-Pick disease type A / B) - specific mutation      

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Biomedical Diagnostic Center (CDB)

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