Clínic Barcelona. Hospital Universitari

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SGSH gene (Sanfilippo type A disease) - specific mutation (familial case and prevalent mutation), whole blood

Fee code: 16046

Aliases: Mucopolysaccharidosis type IIIA, Sanfilippo A disease

Method description

PCR and sequencing

Delivery time

30 days

Note to delivery time


Attach medical records. You can also submit DNA.

Specimen type

Whole blood (anticoagulant: EDTA)

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  
SGSH gene - familial 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 · ·