COMBISNP TARGETED ARRAY FOR PRENATAL ANALYSIS
CombiMatrix’s CombiSNP Prenatal Whole Genome Array provides high-resolution, genome- wide analysis ideal for pregnancies with major structural ultrasound abnormalities. Now, in addition to our Whole Genome Array, CombiMatrix is pleased to offer the CombiSNP Prenatal Targeted Array. By targeting well-characterized regions of known clinical significance, this targeted array provides the added diagnostic power of microarray testing for the detection of microdeletion and microduplication disorders while minimizing the risk of identifying a variant of unclear clinical significance (VOUS).
Like the Prenatal Whole Genome Array, the CombiSNP Prenatal Targeted Array identifies numeric chromosomal abnormalities, unbalanced structural rearrangements, microdeletion and microduplication syndromes and maternal cell contamination. By adjusting probe coverage across regions not associated with known disorders and maximizing coverage in regions of known clinical interest, the proprietary and intelligent design of the Prenatal Targeted Array dramatically reduces the chance of encountering a VOUS result.
How does the Targeted Array Compare to the Whole Genome Array?
|Effective Detection Resolution||Targeted Array||Whole Genome Array|
Regions of Known Clinical Significance
|20 kb||20 kb|
|1 Mb||100 kb|
|Regions of Homozygosity (ROHs) for shared ancestry and uniparental disomy (UPD)||≥5 Mb||≥5 Mb|
Counseling your patients about any type of uncertain finding is always challenging. CombiMatrix’s Prenatal Targeted Array provides a way for your patients to benefit from the technological superiority of microarray analysis for cytogenomic evaluation while minimizing the chance that they will receive a result that fails to provide them with the clarity they seek.
For more information, please contact your local CombiMatrix representative or Client Services at 949.255.0919.