Genetic testing for pediatric disorders

Find answers quickly and affordably

Invitae advantage

"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

Benefits of testing

Genetic information is vital in diagnosis and treatment

Learn more

Test options

1000+ pediatric, metabolic, and neurologic genes

Learn more

When to test

Our Clinical Consult team is here to assist you

Learn more

Invitae advantage

Fast, affordable, high-quality testing—see what sets us apart

Learn more

Finding answers when 
patients need them most

Genetic testing is a vital aid in diagnosis and treatment

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

We offer one of the broadest pediatric, metabolic, and neurologic genetic test menus

Panel testing for more than 1,000 genes, including:

Our goal is to provide you and your patients with clinically actionable information—in a single test.

View all tests

Which test should I order?

Invitae'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

Sponsored testing programs for patients

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.

Does my patient qualify?

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.

Does my patient qualify?

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.

Does my patient qualify?

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.

Does my patient qualify?

Ready to get started? Create an account today.

Create an account

Invitae is working toward one simple goal:
Making quality genetic testing accessible to those who need it.

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

Get started

1. Request free kits for collecting patient specimens

2. Order a test using Invitae’s HIPAA-compliant online portal or on paper

  • Call Clinical Consult at 800-436-3037 if you would like to review patient cases or differentiate between testing options.

  • Patients can also contact Client Services for billing and insurance-related questions.

3. Receive an email when your results are ready (10-21 calendar days, on average)

  • If you have any questions about the results or their clinical implications, our genetic counselors are available to discuss.

Have questions?

Our Clinical Consult team is ready to answer your questions about selecting a genetic test or how to get started.

Clinical Consult

Take the first step by requesting a free specimen collection kit today.

Request a kit