Array comparative genomic hybridization (aCGH) (GEN-123)

Postnatal testing

Array comparative genomic hybridization (aCGH) method enables the analysis of the entire genome in one study with very high resolution. It enables the identification of unbalanced chromosomal aberrations (deletions/duplications) that could not be recognized by classical cytogenetic methods. It is also used to fully identify aberrations whose chromosomal origin cannot be determined by a standard karyotype analysis.

We apply genome-wide oligonucleotide microarrays (Oxford Gene Technology) with average resolution of 120 kb for identification and characterization of copy number variations (CNVs) in patients with intellectual disability (ID) with dysmorphic features and/or congenital malformations.

Tubes with blood should be sent to the Cytogenetic Laboratory of the Medical Genetics Department by expedited post, in ambient temperature.

Waiting time for the test result: 2-3 weeks

Material: peripheral blood in EDTA tubes, volume at least 1 ml

Price: 1600 PLN

Detailed information available at: +48 22 32 77 191


Documents:
Instructions for taking material for testing: download PDF

Referral for test and declaration of informed consent: download PDF

The test fee can be paid directly at the Institute’s cash desk or by transfer to a bank account ALIOR BANK 81 2490 0005 0000 4600 8807 9430.

Prenatal testing

Microarray-based test is the first prenatal diagnostic test conducted in Western European countries. The entire genome microarray analysis is thought to identify chromosomal deletion or duplication in approx. 19% of foetuses in which abnormalities were detected by ultrasound.

The aCGH method is recommended for prenatal diagnostics in the same cases as classic karyotyping. However, this technique is much more sensitive and increases the effectiveness of detecting chromosomal pathology compared to conventional karyotyping. Moreover, it significantly reduces the testing time.

The waiting time for the test result: 3-7 days

Material to analyse: amniotic fluid, trophoblast and umbilical cord blood

Price of this test: 1600 PLN

Detailed information available at: 22 32 77 191


Documents:
Instructions for taking material for testing: download PDF

Referral for test: download PDF

Declaration of informed consent: download PDF

The test fee can be paid directly at the Institute’s cash desk or by transfer to a bank account ALIOR BANK 81 2490 0005 0000 4600 8807 9430.