CarioChip®
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
- 500€
- Turnaround time: From 6 working days (Monday to Friday) (According to sample volume)
Complete genome analysis (Whole Genome Microarrays) with 750K resolution versus 60K from other technologies available on the market.
Indicated for paediatric cases:
- Dysmorphic features or congenital anomalies.
- Normal karyotype, but with clinical manifestation (suspected mental or developmental delay).
- Autism spectrum disorder or other clinical manifestation compatible with a specific chromosomal alteration.
- Anomalous karyotype that requires detailed molecular study to identify the limits of apparently balanced translocations, but with clinical manifestation, and duplications.
- 500€
- Turnaround time: From 20 working days (Monday to Friday)
Benefits
Speed
Results available after one week (depending on type and volume of sample)
Higher resolution
Detects genetic alterations that go unnoticed in the conventional karyotype, allowing small alterations to be identified.
Higher capacity
Diagnostic interpretation that allows over 250 syndromes to be identified.
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).
