Exome

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

Invitae Exome, Duo

Exome analysis of the proband (affected individual).

Invitae Exome, Proband-Only

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

Invitae Exome, Trio

CACNA1S

DSG2

MYL2

MYBPC3

SDHB

MYH7

STK11

SMAD4

LDLR

MYL3

ACTC1

TNNI3

ATP7B

MYH11

PMS2

KCNQ1

TMEM127

ACVRL1

FBN1

TGFBR2

BMPR1A

SCN5A

RPE65

MEN1

ACTA2

TPM1

CASQ2

LMNA

SMAD3

TGFBR1

BRCA2

PALB2

RYR2

SDHC

TSC1

MSH6

MSH2

HNF1A

FLNC

PTEN

TMEM43

TRDN

TNNT2

KCNH2

COL3A1

APOB

TSC2

SDHAF2

PCSK9

BRCA1

RYR1

PKP2

MLH1

MUTYH

TP53

SDHD

PRKAG2

DSC2

CALM3

CALM2

BAG3

CALM1

TNNC1

RBM20

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.

Secondary Findings Add-on

Ensure your patient's results will be up to date with newly described gene-disease associations. View clinical exome sequencing test panels at Invitae.

Invitae's exome test is designed to identify the causes of rare disease. Ensure your patient's results will be up-to-date with published gene discovery.

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Clinical exome sequencing tests for genetic disorders 

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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[Learn more](https://www.invitae.com/providers/exome-sequencing)

Clinical exome sequencing tests for genetic disorders

Exome

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.