Clínic Barcelona. Hospital Universitari

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Osteogenesis, imperfecta, punctual mutation - chorionic villus sample

Fee code: 54541

Components: The provision includes the determination of previously diagnosed mutations in genes responsible for osteogenesis imperfecta. Available genes: COL1A1, COL1A2, IFITM5, CRTAP, PPIB, LEPRE, FKBP10, SP7, SERPINH1, SERPINF1, BMP1, WNT1

Aliases: OI


Eva González Roca


> Immunology Department

Method description

Sequencing type Sanger

Delivery time

15 days

Note to delivery time


Please, consult with the laboratory. Specify the reason for refereal, familial records and a brief clinical summary. Specify familial mutations. It is recommeded to send samples from one or both parents (DNA or EDTA blood)

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


Results informed report

Reference values

Values Units   Age  
Osteogenesis, imperfecta, punctual mutation - chorionic villus sample      

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Biomedical Diagnostic Center (CDB)

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