This is a diagnostic tool that allows us to analyse the human genome in order to identify chromosomal alterations responsible for congenital malformations or intellectual disorders. The DNA of foetal cells or the individual’s blood is hybridised on a genome microchip that allows these alterations to be identified.
Which patients is it most useful for?
- Maternal age over 35
- Anomalous ultrasound findings
- Maternal history of recurrent miscarriage
- Alterations in previous pregnancies
- High risk index in triple screening.
- Anomalous foetal karyotype that requires detailed molecular study
- Maternal anxiety
- Turnaround time: From 6 working days (Monday to Friday) (According to sample volume)
What information does it provide?
DNA from the sample (foetal or postnatal) is hybridised on a genome microchip that allows the following to be identified in one step:
· Copy number variation (CNV).
· Polymorphisms in any region of any chromosome (Whole Genome).
· Unbalanced chromosomal alterations.
· Loss of heterozygosity (LOH).
· Indicates absence of heterozygosity (AOM).