qChip® Pre is a microarray CGH service designed for prenatal routines. Its design allows the detection of +300 genetic alterations that cause developmental delay, intellectual disability, autism, and congenital malformations.
The experience accumulated over years of research and service in the analysis of thousands of prenatal samples using different microarray platforms allows us to offer an excellent prenatal analysis service offering a proprietary and innovative microarray design.
The design allows:
Detect alterations in the cytogenetic and submicroscopic karyotype, both distal and interstitial, with the resolution recommended in by international guidelines.
In addition, we can identify and characterize small supernumerary marker chromosomes (sSMCs) with euchromatic content (Tsuchiya 2008 Mol Cytog, Sheth 2011 EJMG).
The analysis by means of arrays (of CGH), combined with the realization of the conventional karyotype, is currently the most complete prenatal genetic analysis available, since it allows to inspect the fetal genome with great precision and in a short time»
When is it indicated?
Each case requires an individualized study, but it has been reported that the use of microarrays supposes an increase in the detection rates of clinically relevant alterations superior to other standard techniques, so its use is indicated in cases of:
- Family history of chromosomal alterations
- Gestation with elevate biochemical risk values (triple-screening)
- Pregnancy with multiple congenital anomalies detected by ultrasound
- Gestation with anomalous karyotype that requires molecular characterization
- Maternal anxiety
- … Any other indication in which a prenatal study of the fetal karyotype is required.
Technical details
- Own design, which interrogates +300 regions of the genome causing recurrent rearrangements related to known genomic syndromes (see list link of diseases).
- Targeted analysis platform of approximately 60,000 oligonucleotide probes.
- Interrogate regions that cause +150 known genetic syndromes (see list link of diseases)
- High coverage in clinically relevant regions (on average 1 probe / 10Kb).
- Following the recommendations of the different international guides, the rest of the regions of the genome (backbone) are covered with less coverage to minimize the detection of results of uncertain meaning and difficult advice, but maintaining the possibility of identifying large alterations outside the hotspots of disease related in the list.
Turn-around time: 10 working days from sample reception.
