Reproductive health

Test Options

Carrier screening
GeneVu™ provides actionable information about the risks of passing on a genetic condition to a child, providing next steps for a couple's reproductive journey.
Preimplantation genetic testing (PGT)
EmbryVu™ PGS (Preimplantation genetic screening) screens embryos for chromosomal problems by next-generation sequencing to optimize IVF outcomes by identifying healthy embryos for transfer.
CombiPGD™ (Preimplantation genetic diagnosis) identifies unaffected embryos for couples at an increased risk of having a child with a specific genetic disorder based on their own genetic status.
Prenatal diagnosis
CombiSNP™ chromosomal microarray analysis (CMA) is a high resolution chromosome test that can identify disorders of the chromosomes caused by a variety of abnormalities. Prenatal diagnosis by karyotyping evaluates the number and structure of the fetal chromosomes, and is offered for patients who do not wish to undergo more sensitive microarray testing, or who are at an increased risk of a specific numeric chromosomal abnormality. In situations suggesting a significantly increased risk of a numeric chromosome abnormality of chromosome 13, 18, 21, X or Y, CombiFISH™ provides a quick (<48 hour) evaluation of these specific chromosomes while awaiting definitive results from a fetal microarray or karyotype.
Pregnancy loss
CombiSNP™ Array for Pregnancy Loss determines whether a miscarriage, fetal demise, or stillbirth was caused by a fetal chromosome abnormality. Microarray testing is superior to traditional methods of testing, such as karyotyping.
Pediatric developmental disorders
CombiSNP™ Array for Pediatric Diagnosis uses whole genome chromosomal microarray analysis (CMA) to identify chromosomal copy number changes and other chromosomal abnormalities that can result in intellectual disabilities, developmental delays, multiple congenital anomalies, and autism spectrum disorders. (Invitae also offers panel testing for pediatric cases; view these offerings here.)