Karyotype analysis of chorionic villi cells

Karyotype analysis (RHG, ~350 bands) from at least 16 metaphases derived from two independent cultures, in order to ensure maximum reliability of the test results.

The test includes:

• Aneuploidy PCR (QF-PCR), for the rapid detection of aneuploidy for chromosomes 13, 18, 21, X and Y
• detection of the CFTR gene F508del* mutation of cystic fibrosis

This test may also be applied in combination with:

• Extended Prenatal Panel (EPP)
• Molecular karyotype (microarray CGH)

* Detection of the F508del mutation does NOT CONSTITUTE a full mutation analysis for cystic fibrosis. We strongly recommend detection of the F508del mutation from a dry blood sample (INO-DRY) during the 1st trimester of gestation (see below).