Clínic Barcelona. Hospital Universitari

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SGSH gene (Sanfilippo type A disease) - mutation screening, whole blood

Fee code: 16066

Aliases: Mucopolysaccharidosis type IIIA, Sanfilippo A disease

Method description

PCR and sequencing

Delivery time

Note to delivery time

Consult with laboratory staff


Attach medical records. You can also submit DNA.

Specimen type

Whole blood (anticoagulant: EDTA)

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  
SGSH gene - index case      

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Biomedical Diagnostic Center (CDB)

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