Cytogenetic SNP Array

(Blood, Products of Contraception, amniocentesis, CVS)

This Cytogenomic SNP array is a high-resolution method for detecting copy number changes (gains or losses) across the entire genome in a single assay. This platform is also capable of detecting regions of homozygosity related to uniparental disomy or identity by descent. Indications for ordering include the following: Individuals with developmental delay/intellectual disability (with or without dysmorphic features), multiple congenital anomalies, autism spectrum disorder/pervasive developmental disorder, epilepsy/seizures, heart defects, family history of a chromosomal abnormality resulting in a genomic imbalance. This test is also able to further characterize certain chromosomal abnormalities including marker or ring chromosomes, Deletions or duplications, Unbalanced translocations and Apparently balanced de-novo rearrangements in individuals with abnormal phenotypes.

For more details and ordering, please click here.