Invitae is dedicated to lowering the barriers for clinicians and patients to use genetic information across all stages of life—from preconception through adult diagnostics.
Adult inherited testing
Invitae offers gene panels and single-gene testing for a broad range of clinical areas including hereditary cancer, cardiology, neurology, pediatric genetics, metabolic disorders, immunology, and hematology. To view our complete adult inherited test catalog, please visit our Test catalog page.
For these tests, Invitae offers:
- full sequencing with deletion/duplication analysis included at no additional charge
- the ability to order any combination of genes and panels within a single clinical area and to re-requisition additional genes if needed, all at no additional charge
- an innovative family variant testing program for the family of patients who test positive
- clinical support services, including on-demand clinical consultations for healthcare providers and genetic counseling services for patients
Reproductive and family testing
Invitae offers a range of reproductive and family testing options, powered by Good Start Genetics and CombiMatrix. Tests include carrier screening, preimplantation genetic screening, preimplantation genetic diagnosis, prenatal diagnosis, and pregnancy loss analysis. Learn more about these tests on our reproductive and family health webpage.
Invitae’s genetic health screens are a proactive option for healthy adults who want to understand their DNA and focus on prevention. Test results have a clear medical basis and are clinically actionable. To view our complete proactive offering, please visit our Proactive testing page.
Invitae’s pediatric genetics offering includes chromosomal microarray analysis (CMA) as well as gene panels and whole exome testing.
Chromosomal microarray for developmental disorders
Invitae offers microarray testing for individuals with developmental disorders, congenital anomalies and/or autism spectrum disorder, powered by CombiMatrix. Our CombiSNP array evaluates for chromosomal abnormalities that can result in disorders of development. Learn more about microarray testing options on the CombiMatrix website.
Pediatric panel testing
Pediatric panel testing covers a wide range of indications, including epilepsy, developmental disorders, cardiovascular disorders, cystic fibrosis and chronic pancreatitis, skeletal disorders, skin disorders, and pediatric oncology. Pediatric panel testing offers the same benefits as our adult inherited testing, including full sequencing with deletion/duplication analysis; the ability to order any combination of genes and panels within a single clinical area and to re-requisition additional genes if needed; family variant testing; and clinical support services.
Invitae Boosted Exome
The Invitae Boosted Exome provides a rigorous analysis of an individual’s exome through a systematic evaluation of genetic variants informed by the patient’s clinical presentation and medical history.