| Genetic Test |
Type of sample |
Form |
Protocol |
| Constitutional Karyotype |
5 ml whole blood with sodium heparin |
Constitutional Cytogenetic test
|
Back of the form |
| Genetic Test |
5 ml EDTA whole blood or extracted DNA |
Molecular Genetic Test
|
Back of the form |
| |
Buccal swab |
Buccal swab Collection protocol |
| from RNA |
2,5 mlwhole blood into PAXGene™ tube |
PAXGene Collection protocol |
| From tissue |
Skin biopsy (1 cm2 in sterile medium ) |
Skin biopsy Collection protocol |
| Prenatal Diagnosis* |
Amniotic Fluid (two 10 ml tubes) |
Prenatal Genetic Test
|
Back of the form |
| Chorionic villus (5-10 mg in sterile medium) |
| * Maternal blood is required (5 ml in EDTA) and paternal blood if he is a mutation carrier.
|
| Contact previously with the lab to evaluate viability and coordinate the Prenatal Diagnosis |