Autism array comparative genomic hybridization (GEN-128)

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 30 kb for identification and characterization of copy number variations (CNVs) in patients with autism spectrum disorders (ASDs).

This array contains approximately 180,000 oligonucleotide probes that covered the entire human genome and allow to accurate detection of CNVs at the exon level. Probes have been designed to target 4645 genes including 227 genes relevant for etiopathogenesis of ASDs.

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: 2-4 weeks

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

Price: 1800 PLN

Detailed information available at: +48 22 32 77 145


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.