Clínic Barcelona. Hospital Universitari

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Dystonia. Familial case.

Fee code: 71033

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

Method description

Familial variant identification by Sanger sequencing and/or MLPA

Delivery time

40 days

Note to delivery time

Requisites

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

Results

Interpretative results report

Reference values

Values Units   Age  
Dystonia. 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 · · www.hospitalclinic.org