Clínic Barcelona. Hospital Universitari

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Achondroplasia-prenatal diagnosis, chorionic villus

Fee code: 70241

Aliases: Achondroplasia, Dwarfism

Method description

Direct sequencing of exon 8 of FGFR3 gene

Delivery time

15 days

Note to delivery time

Requisites

It is necessary to consult before with the Laboratory and attach the reason of consultation, family history and a brief clinical summary.If a mutational study is required, it is necessary to specify the mutations present in the family. It is also advisable to send sample of parents (DNA or blood with EDTA)

Specimen type

Chorionic villi

Specimen volume

1 mg

Specimen minimum volume

1 mg

Collection instructions

---

Preanalytic treatment

---

Transport conditions

At room temperature or refrigerated

Rejection criteria

Sample in poor condition, Insufficient sample

Results

Interpretative report of the results

Reference values

Values Units   Age  
Achondroplasia      

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Biomedical Diagnostic Center (CDB)

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