Carrier Screening

Genetic carrier screening is available to assess an individual's carrier status, which will tell them if there are any disorders that they may pass on to their children.

Two different assays are implemented to determine carrier status: Next Generation DNA Sequencing and multiplex ligation dependent probe amplification (MLPA) with capillary electrophoresis. There are over 150 genetic disorders that are covered by this type of test including cystic fibrosis, spinal muscular atrophy, Duchenne muscular dystrophy, and Fragile X Syndrome.

Our panel includes all ACMG Tier 1-3 and ACOG recommendations as well as various additional disorders that have a carrier frequency greater than 1:200. Non-invasive prenatal testing (NIPT) is also available and requires a maternal cfDNA blood sample. This type of test screens circulating fetal cells within the mother’s blood sample and gives insight into if the child has any chromosomal abnormalities.

Required Documents for Carrier Screening:

Helpful Documents for Carrier Screening:

Sample Reports: