The identification of structural chromosomal aberrations can provide insight into causative relationships with complex phenotypes—including intellectual disability, developmental delay, and congenital anomalies.
Chromosomal microarrays leverage the investigative power of single nucleotide polymorphism (SNP) genotypes to detect imbalances in copy number and allelic homozygosity, which are commonly associated with genetic constitutional disorders.
Chromosomal microarrays can detect variations that may be missed by other technologies. Traditional cytogenetic methods for the detection of dosage anomalies (copy number imbalances) are unable to assess allelic homozygosity and therefore miss potentially significant findings.
Unlike oligo arrays, which can only identify copy number changes, SNP chromosomal microarrays can identify copy neutral changes, such as uniparental disomy (UPD), and loss of heterozygosity.
Ease of use and high-quality data support a smooth transition from oligo arrays to chromosomal microarrays.
Trilochan Sahoo, MD discusses how he uses chromosomal microarrays to scan the entire genome for common or rare alterations.
Drs. Koehler and Benet-Pages are using the Infinium CytoSnp-850K BeadChip and the TruSight Cancer Panel to analyze chromosomal abnormalities.
Our chromosomal microarrays offer:
This introduction discusses the advantages of genomic technologies for constitutional cytogenetics.
Understanding chromosome aberrations is an integral part of current genomic medicine, playing a role in constitutional disorders and cancer research.
See how the latest advances in genomic technologies can help to identify important mutations in cancer.