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 (p16INK4a) CDKN2A (p14 ARF)   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 c.952G>A (p.Glu318Lys) MLH1 MSH2 MSH3 MSH6
MUTYH MYBPC3 MYH11 MYH7 MYL2 MYL3 MYLK
NF1 NF2 NKX2-5 NTHL1 OTC PALB2 PCSK9
PKP2 PLN PMS2 POLD1 POLE PRKAG2 PRKAR1A
PRKG1 PROC PROS1 PTCH1 PTEN 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