Clínic Barcelona. Hospital Universitari

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

Fee code: 16269

Aliases: Niemann-Pick disease type A / B

Method description

PCR and sequencing

Delivery time

Note to delivery time

Consult with laboratory staff


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

10 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  
Gen SMPD1 (Enfermedad de Niemann-Pick tipo A/B)- búsqueda de mutaciones      

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Biomedical Diagnostic Center (CDB)

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