Invitae carrier screening
The Invitae carrier screen provides actionable information about the risks of passing on a genetic condition to a child, providing next steps for a couple's reproductive journey. Pre-curated panels include Invitae Pan-Ethnic Carrier Screen (3 genes), Invitae Broad Pan-Ethnic Carrier Screen (48 genes), and Invitae Comprehensive Carrier Screen (287 genes). Additional genes are available as add-ons. Please visit the test catalog for more information.
Non-invasive prenatal screening (NIPS)
Invitae NIPS can detect fetal chromosomal abnormalities as early as 10 weeks, for all pregnant patients. Invitae uses whole-genome sequencing (WGS) to quickly analyze cell-free DNA (cfDNA) to assess whether a singleton or twin pregnancy is at increased risk for the three most common chromosomal disorders on chromosomes 21, 18, and 13. Add optional microdeletion and sex chromosome analysis at no additional charge, or pair with carrier screening for even more insights.
Preimplantation genetic testing (PGT)
Invitae PGT screens embryos for chromosomal problems by next-generation sequencing to optimize IVF outcomes by identifying healthy embryos for transfer.
Pregnancy loss
Microarray for pregnancy loss analysis 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.
Prenatal diagnosis by chromosomal microarray
The chromosomal microarray analysis (CMA) is a high-resolution chromosomal test that can identify disorders of the chromosomes caused by a variety of abnormalities. In addition to detecting whole chromosome aneuploidies, microdeletions, and microduplications, CMA can also detect triploidy, regions of homozygosity, uniparental isodisomy, and maternal cell contamination. Two levels of sensitivity are available for this testing option: the whole genome array and the targeted array. The targeted array option is designed to reduce the chance of identifying a variant of uncertain significance (VUS) while maintaining excellent single-nucleotide-polymorphism probe coverage across regions of known clinical significance.
Prenatal diagnosis by karyotyping
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 for a specific numeric chromosomal abnormality.
Prenatal adjunct testing
In situations suggesting a significantly increased risk of a numeric chromosome abnormality of chromosomes 13, 18, 21, X or Y, FISH provides a quick (<48-hour) evaluation of these specific chromosomes while awaiting definitive results from a fetal microarray or karyotype.
Parental karyotyping
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 for a specific numeric chromosomal abnormality.
Learn more on our reproductive health webpage.