Updates to the Invitae Carrier Screen

Invitae is pleased to announce that we’ve made a number of updates and enhancements to our Invitae Carrier Screen to help better serve you and your patients.

Improved panel customization
We recognize that each of your patients has unique needs, which is why our carrier screen is now fully customizable. You can order just one gene all the way up to 301 genes—and anything in between.

We’ve made ordering much more seamless through our online portal, with one-click add-ons of some of the most commonly ordered genes, including all 13 optional add-on genes, the alpha-thalassemia genes (HBA1/HBA2), and the HBB-related hemoglobinopathy gene (HBB).

New curated panels and updated panel names
Invitae now offers each of our three curated panels in two versions: including X-linked disorders, which may establish carrier status in females, and excluding X-linked disorders to avoid an unintentional diagnosis in a male partner.

Comprehensive Carrier Screen
Comprehensive Carrier Screen (without X-linked disorders)
This panel includes up to 288 genes and is appropriate for patients of all ethnicities who want a comprehensive carrier screen.

Broad Carrier Screen (previously named Broad Pan-Ethnic)
Broad Carrier Screen (without X-linked disorders)
This panel includes up to 46 genes associated with disorders that may have a severe presentation and are prevalent across all ethnicities.

Core Carrier Screen (previously named Pan-Ethnic)
Core Carrier Screen (without X-linked disorders)
This panel includes three genes associated with cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome, which are common, severe disorders seen across all ethnicities.

Content addition
We’ve added GP1BA as a new optional add-on gene for Bernard-Soulier syndrome (GP1BA-related).

Renamed genes
In order to remain consistent with the Human Genome Organisation (HUGO), HFE2 has been renamed HJV and IKBKAP has been renamed ELP1. HJV is associated with hereditary hemochromatosis (HJV-related) and is available as part of the Comprehensive Carrier Screen. ELP1 is associated with familial dysautonomia and can be found on the Comprehensive and Broad Carrier Screens.

We look forward to adding future enhancements to our offering to ensure that your patients are receiving the best testing. We welcome your feedback on what’s working and what can be improved!