qChip® Pre. CGH Prenatal microarray

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.

Download table of genes and diseases

Download the informed consent document HERE

Access the order platform Print application form
How to order a test
      1. Identify the adequate test from our service catalogue.
      2. Prepare the test application form and fill in all the information available both for the sample and the clinical record to guarantee highest quality of test results and shortest response time.
      3. It is crucial to correctly identify the sample with patient name or identifier and date of birth.
      4. Print the completed application form and sign it.
      5. Collect the required sample quantity.
      6. Properly prepare the sample shipment along with the application form.
      7. Alternatively, the order can be processed conveniently via our online order platform.
Required specifications for biologic samples
    • Blood – 1 EDTA tube with 3-5 ml (children 1ml minimum)
    • Purified DNA – usually >5 ug, at >50 ng/ul
    • Saliva or buccal swab – Request collection kit
    • Blood on filter paper – A minimum of 10 spots on Guthrie card or filter paper
    • Amniotic fluid – Minimum of 10 ml
    • CVS – Minimum of 2-3 villi
    • Cord blood – Minimum 1 ml
    • Cultured cells – 1 vial of 25 ml, minimum 80% confluence
    • Biopsy or fresh tissue – More than 10 mg of tissue
    • Paraffin-embedded tissue – At least 10 cuts of 20 um
    • cfDNA – 1 tube DNA BCT Streck with 10 ml of blood
How to prepare your sample for shipping

Call us at +34 932.301.270 and we will take care of a smooth sample pick-up and shipping.

How to prepare your sample for shipping?

  • Blood-EDTA, purified DNA, saliva, blood on paper, cord blood, biopsy, … are stable at room temperature for 3 or 4 days. Samples can be sent, adequately protected, by ordinary mail or courier.
  • Amniotic fluid (a minimum of 10 ml collected in a sterile falcon test tube). Can be sent at room temperature and low temperatures should be avoided. Samples should reach our laboratory in no more than 24 hours.
  • Chorionic villi samples must travel in the same way, in a tube with conical bottom FILLED TO CAPACITY with PBS or culture medium.
  • Cultured cells should be shipped at room temperature, in a culture flask filled to capacity with culture medium.
  • Blood for cfDNA analysis: must be shipped at room temperature.