Exome

Exome sequencing is often ordered when individuals present with complex, syndromic symptoms that have a suspected genetic etiology. Exome sequencing offers an efficient method to target more than 18,000 genes, thus providing a cost-effective, timely tool to assess multiple genes at once.
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All Tests

Frequently ordered tests

Card kit

Invitae Exome, Trio

Invitae Exome, Trio

Test code: 80003 • 6-8 weeks from Invitae’s receipt of all specimens.

Exome analysis of the proband and both biological parents (affected or unaffected).

Card kit

Invitae Exome, Duo

Invitae Exome, Duo

Test code: 80002 • 6-8 weeks from Invitae’s receipt of all specimens.

Proband and one biological parent (affected or unaffected) are tested.

Card kit

Invitae Exome, Proband-Only

Invitae Exome, Proband-Only

Test code: 80001 • 6-8 weeks from Invitae’s receipt of all specimens.

Exome analysis of the proband (affected individual).

Card kit

Secondary Findings Add-on

Secondary Findings Add-on

Test code: 80004

The Secondary Findings Add-on analyzes the 81 genes identified as medically actionable by the American College of Medical Genetics and Genomics. This test can only be ordered as an optional add-on to exome sequencing and has no additional charge.

Check gene coverage

Prior to ordering the Invitae Exome, you can use our gene coverage search tool to see how well specific gene(s) of interest are covered by the assay. Please note, this tool shows assay limitations for current exome only.