What should I send?

Preparation of the sample

Temperature

T° Ambiante

Selected nature

EDTA whole blood

Quantity

5 ml

Technical

Sequencing

Average turnouroud time

5

Realisation frequency

2/w

Additional information

Comments

This test is to be performed ONLY on individuals related to an index case in whom a pathogenic variant has ALREADY been identified through a molecular biology technique.

You must MANDATORILY provide the report specifying the exact nomenclature of the pathogenic variant identified in the index case.

If this document is not provided, a full sequencing of the SERPIN1A gene will be performed

Cerba does not request this document in order to avoid delaying the delivery of results.

You must also INCLUDE the form titled "Developmental Disorders and Genetic Diseases", along with a copy of the consent form and the medical consultation certificate.

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