The following test options are currently available on our reproductive and family health
websites. The links below will open in a new window.
Preimplantation genetic diagnosis (PGD)
CombiPGD™ identifies unaffected embryos for couples at an increased risk of having
a child with a specific genetic disorder based on their own genetic status.
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.
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