"The hardest process as a parent was really trying to find an answer for why our children were sick, which is something that I really hope to change for future patients."
–Heidi Bjornson-Pennell, Board Member, PCD Foundation
–Heidi Bjornson-Pennell, Board Member, PCD Foundation
Genetic information is vital in diagnosis and treatment
1000+ pediatric, metabolic, and neurologic genes
Our Clinical Consult team is here to assist you
Fast, affordable, high-quality testing—see what sets us apart
Genetic testing enables you to:
Shorten the time to diagnosis
Tailor care to your patients’ specific needs, including:
Determining which medications may be most effective or contraindicated
Reducing or eliminating the need for more invasive testing (i.e., muscle/skin biopsies, CSF studies, EMG/NCV testing)
Identifying appropriate clinical trials and emerging therapies
Ensure that you don’t miss diagnosing a treatable condition
Predict or identify risk of disease for family members
Panel testing for more than 1,000 genes, including:
Comprehensive testing in epilepsy, neuromuscular disorders, ciliopathies, and RASopathies
Robust testing for inherited metabolic disorders, including panels by analyte
Additional panels covering a broad range of conditions
Results in 10 to 21 days, on average
Panels tailored to your specific patient
Our goal is to provide you and your patients with clinically actionable information—in a single test.
View all testsInvitae's experienced genetic counselors and world class scientists are available to help you decide which test is the most appropriate for your patient.
Our Clinical Consult team can assist in reviewing patient cases that may benefit from genetic testing, explaining the difference between genetic tests, and aiding in interpreting results.
Learn more![]() |
Behind the Seizure®: epilepsy Invitae and BioMarin have partnered to offer pediatric epilepsy testing at no cost to the patient. With more than 50% of epilepsies linked to a genetic basis, early testing may be the most direct, cost-effective, and accurate diagnostic tool. |
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Alnylam Act®: Acute Hepatic Porphyria Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals (over 16 years of age) who may carry a genetic mutation associated with acute hepatic porphyria (AHP), a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic debilitating symptoms that negatively impact daily functioning and quality of life. |
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Alnylam Act®: Primary Hyperoxaluria Type 1 Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals who may carry a genetic mutation associated with primary hyperoxaluria type 1, a rare genetic disorder that leads to progressive renal failure and multiorgan damage once the disease advances. |
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SMA Identified Biogen, together with Invitae, is offering no-charge genetic testing to patients suspected of having or clinically diagnosed with spinal muscular atrophy (SMA). The SMA Identified Program facilitates access to genetic testing to help accelerate or confirm the diagnosis of SMA. |
Flat price for panel testing includes any genes within a clinical area
$250 patient-pay option helps make high-quality testing accessible
Negative result? Test genes in the same clinical area at no additional charge
Positive result? Test blood relatives
Genetic counselors available on demand to discuss tough cases and even counsel your patients directly
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1. Request free kits for collecting patient specimens
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2. Order a test using Invitae’s HIPAA-compliant online portal or on paper
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3. Receive an email when your results are ready (10-21 calendar days, on average)
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Our Clinical Consult team is ready to answer your questions about selecting a genetic test or how to get started.