qChip PdC®. Analysis Product of Conception

In case of a spontaneous fetal loss (recurrent or not) or of a voluntary interruption of pregnancy due to the presence of congenital anomalies incompatible with life, the conduction of a genetic study is indicated with the aim to determine the presence of genetic alterations responsible for the clinical case, and that may have repercussions in future pregnancies.

In these cases, the analysis by aCGH improves the detection rate and is an excellent alternative to conventional cytogenetic karyotype because NO growing cells are required, and the technique is therefore it is not affected by low cell viability, which causes the preparation of chromosomes to fail in a high percentage of cases.

qChip® PDC is an oligonucleotide microarray that interrogates the presence of copy number variants of complete chromosomes (aneuploidies), chromosomal regions associated with recurrent genomic disorders, subtelomeric and pericentromeric regions. Additionally, it also covers the rest of the genome with a lower probe density (1 probe / 125Kb, approx).

When is it indicated?

  • Misscarriage or spontaneous fetal loss (recurrent or not).
  • Legal pregnancy termination due to ultrasonographic findings.
  • Concluded pregnancy with an anomalous karyotype that requires molecular characterization.

Please note that

In some cases, in order to complete study and understand the results to provide adequate genetic counseling, it may be necessary to carry out complementary studies (FISH, for example), both in the index case and in samples of other relatives (parents usually).

Technical details

  • Chip with ~ 60,000 oligonucleotide-type probes.
  • Interrogates 250 + known genetic syndromes (see link with list of diseases)
  • Average coverage in clinically relevant regions: 1 probe / 10Kb.
  • Average coverage in the rest of the genome: 1 probe / 125Kb.

Turn-around time: 21 working days from sample reception.

This design allows to

  • Detect and characterize genetic alterations of submicroscopic copy number.
  • Characterize imbalances of copy number previously identified with the karyotype study (deletions, apparently balanced translocations, additions, derivative chromosomes, etc.)
  • Identify and characterize small supernumerary marker chromosomes (sSMCs) with euchromatic content (Tsuchiya 2008 Muy Cytog; Sheth 2011 EJMG).

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.