This study is designed to simultaneously analyze the presence or absence of genetic and chromosomal abnormalities (amplifications or deletions) across the entire genome. This study provides high-resolution analysis of 308 OMIM syndromes and other genetic regions responsible for rare genetic disorders such as autism.
This test also includes screening for 115 genes specific to autism spectrum disorders.
It is especially indicated for intellectual disability and polymalformative syndromes and autism.
Array CGH (Comparative Genomic Hybridization)
Array CGH (Comparative Genomic Hybridization) is a genomic diagnostic technique used as a first choice study in various pathologies of genetic origin. The array CGH allows the entire genome of an individual to be analyzed in a single assay for alterations due to gain or loss of genetic material.
Microarrays for copy number alterations are recommended as the study of first choice in the evaluation of individuals with the following alterations:
- Intellectual and non-syndromic developmental disability
- Multiple anomalies and malformations associated or not with a well-defined syndrome.
- Autism spectrum disorders
Studies available
- Array CGH 60k: 308 OMIM syndromes and other genetic regions responsible for pathology Resolution 20 times higher than conventional karyotyping).
- Array CGH 180k: Resolution 50 times higher than that of conventional karyotyping; 115 genes associated with autism
- Array CGH 400k: 200 times higher resolution than conventional karyotyping
Molecular karyotyping
- Digital and in-app reporting