Clínic Barcelona. Hospital Universitari

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Cardiopathy study. Familial case.

Fee code: 71035

Components: Familial mutation, targeted sequencing and/or MLPA to detect a previously characterized variant in a family member.

Aliases: Segregation analysis, presymptomatic testing, carrier testing, point mutation detection


Míriam Potrony Mateu

Method description

Familial variant identification by Sanger sequencing and/or MLPA

Delivery time

40 days

Note to delivery time


A copy of the family member’s test result documenting the familial variant is required.

Specimen type

Whole blood (anticoagulant: EDTA)

Specimen volume

2 mL

Specimen minimum volume

1 mL

Collection instructions

At room temperature

Preanalytic treatment


Transport conditions

At room temperature

Rejection criteria

Clotted sample, Frozen specimen


Interpretative results report

Reference values

Values Units   Age  
Cardiopathy study. 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 · ·