Signature Genomics was originally established as a partnership between three companies: Signature Genomic Services, Pathology Associates Medical Laboratories, and Sacred Heart Medical Centre. The company was founded by Lisa Shaffer, Ph.D. and Bassem Bejjani, M.D., both of whom are experts in molecular and clinical genetics, and cytogenetics.
Signature Genomics has developed an exclusive range of products, including the SignatureChipWG, SignatureChipOS, and Signature PrenatalChip. The majority of the company’s current products are diagnostic in nature, testing for genetic disorders both common and rare, including Down Syndrome, Prader Willi Syndrome, neurofibromatosis, and various physical deformities.
SignatureChipWG and SignatureChipOS
Both the SignatureChipWG and the SignatureChipOS have the same basic purpose: to diagnose genetic disorders. However, they accomplish this objective in slightly different ways, and each method has some specific advantages and disadvantages. Both methods cover more than 150 chromosomal syndrome loci, but whereas the WG chip is less likely to detect insignificant DNA alterations (and hence prevent “false positive” type results), the OS chip is actually more likely to detect small alterations which may be harmful, but which may not be detected by the WG chip.
Essentially, this means that the SignatureChipWG is a little less sensitive than the SignatureChipOS, and can potentially miss small regions of deleted DNA which might be harmful. However, the OS chip is more likely to pick up small DNA alterations of indeterminate clinical significance. This means also that the two methods are complementary, and carrying out both tests in tandem has clear advantages.
PrenatalChip
The PrenatalChip is a genetic diagnostic test which can be used to examine the DNA of unborn babies. However, while the WG and OS Signature chips test for adult-onset genetic disorders, the PrenatalChip only examines specific regions of DNA which are associated with malformation syndromes and mental retardation disorders. This test does not look for genetic mutations associated with any adult-onset disorders. The PrenatalChip test is most often used in cases where a pregnant woman has had an abnormal ultrasound, or a a history of miscarriages, stillbirths, or other pregnancy issues.