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

Test performed for the parents of an index case only (results from the index case are mandatory). Sample must come with completed "developmental disorders and genetic diseases" form and a copy of the certificate and informed consent forms.

Alpha-A antitrypsin will systematically be assayed (included).

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