What is Carrier Screening?
is a genetic test used to determine if you carry a gene
for certain genetic disorders.
1. Committee Opinion No. 690. American College of Obstetricians and Gynecologists. (2017) Obstet Gynecol.129:e35–40.
2. Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med. 2013;15(3):178-186.
3. Archibald AD, Smith MJ, Burgess T, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia; outcomes of 12,000 tests. Genet Med. 2018;20(5)513-523.
Information contained herein this site is not meant to substitute qualified medical advice and is for reference only. If the test result returns as positive for a mutation, any patient treatment plans should only be undertaken by or in consultation with a qualified healthcare professional. Further, confirmatory or diagnostic testing may be needed for final diagnosis of any condition. Cordlife and its testing partner recommend that non-directive genetic counselling and guidance should always be provided to patients prior to undertaking any genetic testing and when reviewing results with the patient. Accuracy of genetic testing may be affected by certain clinical factors. Therefore, test results should always be interpreted in the context of other clinical and family information of the patient. Informed consent should always be obtained from the patient prior to testing.