Genetic testing for metabolic conditions & newborn screening

Affordable options for when you need fast answers

Invitae advantage

"As metabolic treatment breakthroughs continue to advance, the importance of using genetic information to make an accurate, early diagnosis that can guide clinical decision-making also grows."

–Robert Nussbaum, MD, Chief Medical Officer, Invitae

Putting genetics to work for your patients

Benefits of testing

Genetic information is vital in diagnosis and treatment

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Test options

375+ genes in panels organized by indication & analyte

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When to test

Our Clinical Consult team can assist as needed

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Invitae advantage

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

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Genetic testing is a vital aid in diagnosis and treatment

Genetic testing may enable you to:

  • Shorten the time to diagnosis

  • Tailor care to your patients’ specific needs, including:

    • Identifying appropriate clinical trials and emerging therapies

    • Determining which medications may be most effective or contraindicated

    • Reducing or eliminating the need for more invasive testing

  • Predict or identify risk of disease for family members

We offer expertly curated metabolic and newborn screening genetic test menus

  • Panels designed by a biochemical geneticist to meet your needs

  • One of the broadest lysosomal storage disorders panels available

  • Comprehensive newborn screening panels that provide molecular confirmation of biochemical test results

  • Panels for diagnosing treatable neurometabolic disorders

  • Testing for acute hepatic porphyrias, a disease characterized by potentially life-threatening attacks of chronic, debilitating symptoms

  • Additional panels and single-gene tests for a broad range of rare metabolic conditions

  • Panels tailored to your specific patient

  • Results in 10–21 days, on average

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

Who should I test? And which test should I order?

Our genetic testing panels are organized both by indication and by analyte to help guide appropriate testing consistent with clinical presentation and biochemical results.

In addition, for cases where the best test is not clear, Invitae's experienced genetic counselors and scientists are available to assist in:

  • reviewing patient cases that may benefit from genetic testing
  • explaining the difference between genetic tests
  • aiding in interpreting results.
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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®: hereditary ATTR amyloidosis

Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals (over 18 years of age) who may carry a genetic mutation associated with hereditary ATTR (hATTR) amyloidosis, an inherited, rapidly progressive, life-threatening disease.

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?

Uncovering Periodic Paralysis

Invitae and Strongbridge have partnered to offer a periodic paralysis gene panel test for those (over 18 years of age) who have episodic muscle weakness or temporary paralysis provoked by common triggers for this disorder.

Does my patient qualify?

SMA Identified

The SMA Identified program, sponsored by Biogen and offered through Invitae, facilitates access to genetic testing at no charge to your patients to help in the diagnosis of SMA or carrier status identification of SMA.

Does my patient qualify?

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 talk to your patients directly

Ready to get started? Create an account today.

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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