Your patients’ results are ready. Now what?

Your patients’ results are ready. Now what?

Invitae results guides 

Genetic information is complex, and it is not always easy to understand what test results mean or the appropriate actions for individuals who test positive. Invitae’s results guides outline management options that patients and their healthcare providers may choose to consider. 

Invitae’s results guides were developed by experts and are based on standard medical management guidelines and published data. Of note, these result guides are general and are not specific to an individual’s genetic test result or personal and family history. They do not represent medical advice and are not meant to replace care by an appropriate health care provider. They are intended to be a resource for starting the conversation about what to do next. 

These guides are automatically appended to reports, unless you choose to exclude them by logging in to your Invitae account and visiting the settings page.

Invitae test result FAQs answer commonly asked questions about possible results.

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Positive results guide

Negative results guide

VUS results guide

Invitae's gene-specific guides provide detailed information about positive result implications and actionable next steps. We strive to keep these guides up to date with the most recent medical information, but healthcare providers should always refer to current guidelines and recommendations when considering surveillance and treatment options. Please note that these guides are not appropriate for individuals who have a positive carrier screen result for an autosomal recessive condition.

ACTA2 ACTC1 ACTN2 ACVRL1 APC APC (p.lle1307Lys) APOB
ATM ATM c.7271T>G (p.Val2424Gly) ATP7B AXIN2 BAG3 BAP1 BARD1
BMPR1A BMPR2 BRCA1 BRCA2 BRIP1 CACNA1C CACNA1S
CALM1 CALM2 CALM3 CASQ2 CAV1 CAV3 CDC73
CDH1 CDKN2A CHEK2 COL3A1 CRYAB CSRP3 DES
DICER1 DMD DSC2 DSG2 DSP EMD ENG
EPCAM F2 F5 F9 FBN1 FH FHL1
FLCN FLNC GDF2 GLA GREM1 HAMP HCN4
HFE HJV HOXB13 JUP KCNE1 KCNH2 KCNJ2
KCNQ1 LAMP2 LDLR LDLRAP1 LMNA MAX MEN1
MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH
MYBPC3 MYH11 MYH7 MYL2 MYL3 MYLK NBN
NF1 NF2 NKX2-5 NTHL1 OTC PALB2 PCSK9
PKP2 PLN PMS2 POLD1 POLE PRKAG2 PRKAR1A
PRKG1 PROC PROS1 PTCH1 PTEN RAD50 RAD51C
RAD51D RB1 RBM20 RET RYR1 RYR2 SCN5A
SDHA SDHAF2 SDHB SDHC SDHD SERPINA1 SERPINC1
SGCD SLC40A1 SMAD3 SMAD4 SMAD4 c.1486C>T (p.Arg496Cys) SMAD4 c.1498A>G (p.Ile500Val) SMARCA4
SMARCB1 STK11 TCAP TFR2 TGFB2 TGFB3 TGFBR1
TGFBR2 TMEM127 TMEM43 TNNC1 TNNI3 TNNT2 TP53
TPM1 TSC1 TSC2 TTR VHL WT1