Even broader coverage

High quality genetic testing across pediatric, neurological, and rare diseases

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The answers you need in epilepsy, developmental disorders, overgrowth syndromes, skeletal disorders, ophthalmology, and dermatology

At Invitae, we are committed to providing high quality genetic testing easily and affordably. Today, we are excited to release 24 new panels and update 19 already available panels, broadening our test menu across a wide range of disorders including epilepsy, developmental disorders, overgrowth syndromes, skeletal disorders, ophthalmology, and dermatology.

With this release, we added 183 new genes, bringing our total catalog offering to over 1100 genes and increasing our ability to provide you and your patients clinically actionable information, in a single test.

Updated epilepsy panels

The Invitae Epilepsy Panel now incorporates up to 186 genes, providing expanded comprehensive coverage of all major forms of epilepsy. As before, our test includes deletion and duplication testing, which is essential in genetic testing for epilepsy as a significant fraction of pathogenic changes are due to exonic deletions. Key newly added genes include PIGA, PIGN, PIGO, SLC13A5, CASK, EHMT1, NGLY1, and GLDC, among others. We also added a new Invitae Neurodegeneration with Brain Iron Accumulation Panel.

Updated RASopathies (Noonan spectrum disorders) panels

The Invitae RASopathies Comprehensive Panel has been updated to include RRAS and SOS2 for a total of 18 genes that are relevant to diagnosing individuals who have features that fall within the RASopathies spectrum.

New and updated ciliopathies panels

The Invitae Ciliopathies Panel has expanded from 39 to 102 genes. The new Invitae Skeletal Ciliopathies Panel has been added to fully address differential diagnoses. Other ciliopathy panel updates include the Invitae Bardet-Biedl Syndrome Panel and the Invitae Senior-Loken Syndrome Panel.

New and updated developmental disorders tests

Ten new developmental disorder tests and panels that cover a variety of syndromic developmental disorders including Baraitser-Winter Cerebrofrontofacial, CHOPS, Glass, Renpenning, and WAGR Syndromes. Updates to the Invitae Cornelia de Lange Syndrome Panel and Invitae Rubenstein-Taybi Syndrome Panel are also included in this launch to aid in diagnosis of these disorders.

New and updated skeletal disorders tests

Eight new tests and panels in our skeletal disorders menu include genes for Ellis van Creveld and Weyers acrofacial dysostosis, Thrombocytopenia-Absent Radius (TAR) syndrome, and trichorhinophalangeal syndrome. The TAR syndrome test includes evaluation for the recurrent 1q21.1 deletion and RBM8A sequence variants.

New overgrowth syndromes panels

We now offer the Invitae Overgrowth and Macrocephaly Syndromes Panel (20 genes) and Invitae Proteus Syndrome (AKT1) Test, covering an important range of developmental overgrowth syndromes.

New and updated ophthalmology panels

Four new tests have been added and four current tests have been updated in our panels for ophthalmology, including the Invitae Congenital Cataracts, Microphthalmia/Anophthalmia, and Leber Congenital Amaurosis Panels.

New and updated dermatology tests

Our dermatology offering includes the new Invitae TP63-Related Disorders Test and updates to the Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel.

View additional details about genes on our new and updated panels flyer.

All panels are available to order online or using a paper order form.

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