Test Limitations:
Test results and variant interpretation are based on the proper identification of the submitted specimen and the use of correct human reference sequences at the queried loci. In very rare instances, errors may result due to mix-up or co-mingling of specimens. Positive results do not imply that there are no other contributions, genetic or otherwise, to the patient's phenotype, and negative results do not rule out a genetic cause for the indication for testing. Result interpretation is based on the collected information available at the time of reporting. CNV+ will not detect balanced alterations (reciprocal translocations, Robertsonian translocations, inversions, and balanced insertions), low level mosaicism, point mutations, insertion/deletions within genes, methylation abnormalities, or genomic imbalances in segmentally duplicated regions. CNV+ is not designed to detect small copy number variants (<100kb) unless there is a significant copy number change (homozygous deletion or duplication >=4X). Due to high similarity of certain regions on chromosome X and chromosome Y, CNVs in the following regions may not be detected for male patients (chrX:60000-2699520; chrX:154930289-155260560; chrY:10000-2649520; chrY:59033286-59363566).