What should I send?
Preparation of the sample
Temperature
Selected nature
Quantity
Technical
Average turnouroud time
Realisation frequency
Additional information
Comments
Search for a previously identified variant in an index case. Analysis performed as part of a family study or prenatal diagnosis or for confirmation after NGS analysis.
It is mandatory to attach a copy of the laboratory result mentioning this variant with its HGVS nomenclature as well as the certificate/informed consent for this genetic testing.