Clínic Barcelona. Hospital Universitari

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SGSH gene (Sanfilippo type A disease), amniocytes

Fee code: 16250

Aliases: Mucopolysaccharidosis type IIIA, Sanfilippo A disease

Method description

PCR and sequencing

Delivery time

28 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. If you prefer you can send a confluent culture of amniocytes.

Specimen type

Amniotic fluid

Specimen volume

15 - 20 mL

Specimen minimum volume

15 mL

Collection instructions

Puncture under sterile conditions

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 · ·