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.
Karyotype analysis of chorionic villi cells
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).