Clínic Barcelona. Hospital Universitari

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SGSH gene (Sanfilippo type A disease), chorionic villi

Fee code: 16250

Aliases: Mucopolysaccharidosis type IIIA, Sanfilippo A disease

Method description

PCR and sequencing

Delivery time

15 days

Note to delivery time


Indispensable prior consultation. Attach medical records. Sample must be received within 24 hours after collection. Do not freeze the sample.

Specimen type

Chorionic villi. If preferred, DNA can be sent instead.

Specimen volume

30 mg

Specimen minimum volume

20 mg

Collection instructions

Carefully separate the maternal decidua and submerge the biopsy in sterile culture medium

Preanalytic treatment


Transport conditions

At room temperature

Rejection criteria

Frozen specimen, Contaminated specimen


Interpretive report of the results

Reference values

Values Units   Age  
SGSH gene      

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Biomedical Diagnostic Center (CDB)

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