Clinical practice resources
Genetic test results can be critical to patient care plans—but they’re just one component of your busy practice. Invitae’s clinical practice resources can help you identify when testing should be considered, educate patients on the purpose of genetic testing, test options, and potential results, and answer common questions.
Gene-specific medical management
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. Our result guides were developed by experts and are based on standard medical management guidelines and published data. They do not represent medical advice and are meant to be used to support care provided by a healthcare provider. They are intended to be a resource for starting the conversation about potential next steps after receiving the genetic test report. The positive result guides below are labeled by gene and number of variants, or specific variant(s). It is important to review these details on a test report carefully.
- 1 variant specifies a gene result with a single pathogenic or likely pathogenic variant. It would also apply to 2 or more variants that are on the same chromosome (ie, inherited from the same parent). These guides only apply when the variant is associated with an autosomal dominant condition, unless otherwise noted as a "carrier" or "benign reportable variant" result guide.
- 2 variants specifies a gene result with two pathogenic or likely pathogenic variants, on opposite chromosomes (ie, one from each parent). This may be two of the same variant (homozygous) or two different variants in the gene (each called heterozygous).
- These guides may not be appropriate for “potentially positive” or “positive possibly mosaic” results, or for results that are suspected to be blood-limited or part of a larger imbalance of genetic material (copy number variant)
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. Of note, these result guides are general and are not specific to an individual’s genetic test result or personal and family history. 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. In addition, these guides may not include all relevant international recommendations.
A-C
ABCC9 (1 variant)
ABCD1 (1 variant)
ABCG5 (2 variants)
ABCG8 (2 variants)
ACADVL (2 variants)
ACTA1 (1 variant)
ACTA2 (1 variant)
ACTC1 (1 variant)
ACTN2 (1 variant)
ACVRL1 (1 variant)
ADCY5 (1 variant)
AGL (2 variants)
AIP (1 variant)
ALK (1 variant)
ALMS1 (2 variants)
ALPK3 (1 variant)
ALPK3 (2 variants)
ALPL (1 variant)
ALPL (2 variants)
ANKRD26 (1 variant)
AP2S1 (1 variant)
APC (1 variant)
APC c.3920T>A (p.lle1307Lys) (1 variant)
APOB (1 variant)
APOL1 c.1024A>G (p.Ser342Gly) and/or c.1164_1169delTTATAA (p.Asn388_Tyr389del) (2 variants)
ARID1B (1 variant)
ASXL1 (1 variant)
ATM (1 variant)
ATM c.7271T>G (p.Val2424Gly) (1 variant)
ATM (2 variants)
ATP1A3 (1 variant)
ATP7B (2 variants)
AXIN2 (1 variant)
BAG3 (1 variant)
BAP1 (1 variant)
BARD1 (1 variant)
BLM (2 variants)
BMPR1A (1 variant)
BMPR2 (1 variant)
BRAF (1 variant)
BRCA1 (1 variant)
BRCA1 c.5096G>A (p.Arg1699Gln) (1 variant)
BRCA2 (1 variant)
BRCA2 c.9699_9702del (p.Cys3233Trpfs*15) (1 variant)
BRIP1 (1 variant)
BTD (2 variants)
BUB1B (2 variants)
C9orf72 (1 variant)
CACNA1A (1 variant)
CACNA1C (1 variant)
CACNA1S (1 variant)
CALM1 (1 variant)
CALM2 (1 variant)
CALM3 (1 variant)
CAPN3 (2 variants)
CASQ2 (1 variant)
CASQ2 (2 variants)
CASR (1 variant)
CAV1 (1 variant)
CAV3 (1 variant)
CBL (1 variant)
CDC73 (1 variant)
CDH1 (1 variant)
CDH2 (1 variant)
CDK4 (1 variant)
CDKN1B (1 variant)
CDKN1C (1 variant)
CDKN2A (p16INK4a) (1 variant)
CDKN2A (p14ARF) (1 variant)
CEBPA (1 variant)
CEP57 (2 variants)
CFTR (2 variants)
CFTR carrier (1 variant)
CHD2 (1 variant)
CHEK2 (1 variant)
CHEK2 c.1283C>T (p.Ser428Phe) (1 variant)
CHEK2 c.470T>C (p.Ile157Thr) (1 variant)
COL3A1 (1 variant)
COL5A1 (1 variant)
COL5A2 (1 variant)
CPA1 (1 variant)
CRYAB (1 variant)
CSRP3 (1 variant)
CTNNA1 (1 variant)
CTNNB1 (1 variant)
CTRC (1 variant)
CYLD (1 variant)D-L
DDX41 (1 variant)
DEPDC5 (1 variant)
DES (1 variant)
DICER1 (1 variant)
DIS3L2 (2 variants)
DLG4 (1 variant)
DMD (1 variant)
DNMT3A (1 variant)
DSC2 (1 variant)
DSG2 (1 variant)
DSP (1 variant)
ELAC2 (2 variants)
EGFR (1 variant)
ELN (1 variant)
EMD (1 variant)
ENG (1 variant)
EPCAM (1 variant)
EXT1 (1 variant)
EXT2 (1 variant)
EYA4 (1 variant)
F2 (1 variant)
F2 c.*97G>A (non-coding) (1 variant)
F5 (1 variant)
F5 c.1601G>A (p.Arg534Gln) (1 variant)
F8 (1 variant)
F9 (1 variant)
F11 (1 variant)
F11 (2 variants)
FBN1 (1 variant)
FGFR3 c.1138G>A (p.Gly380Arg) (1 variant)
FGFR3 c.1138G>C (p.Gly380Arg) (1 variant)
FH (1 variant)
FHL1 (1 variant)
FKRP (2 variants)
FKTN (2 variants)
FLCN (1 variant)
FLNA (1 variant)
FLNC (1 variant)
FOXG1 (1 variant)
G6PD (1 variant, XY individual)
GAA (2 variants)
GABRA1 (1 variant)
GABRA2 (1 variant)
GABRA5 (1 variant)
GABRB2 (1 variant)
GABRB3 (1 variant)
GATA2 (1 variant)
GATA4 (1 variant)
GATA5 (1 variant)
GCH1 (1 variant)
GCH1 (2 variants)
GDF2 (1 variant)
GJA5 (1 variant)
GLA (1 variant)
GNA11 (1 variant)
GPC3 (1 variant)
GREM1 (1 variant)
GRIA3 (1 variant)
GRID2 (2 variants)
GRIN1 (1 variant)
GRIN2A (1 variant)
GRIN2B (1 variant)
GRIN2D (1 variant)
GRN (1 variant)
HAMP (2 variants)
HCN4 (1 variant)
HFE (2 variants)
HJV (2 variants)
HMBS (1 variant)
HNF1A (1 variant)
HNF1B (1 variant)
HOXB13 c.251G>A (p.Gly84Glu) (1 variant)
HOXB13 c.853del (p.*285Lysext*96) (1 variant)
HRAS (1 variant)
JUP (1 variant)
KCNE1 (1 variant)
KCNE1 benign reportable variant c.253G>A (p.Asp85Asn) (1 variant)
KCNH1 (1 variant)
KCNH2 (1 variant)
KCNJ2 (1 variant)
KCNJ5 (1 variant)
KCNQ1 (1 variant)
KCNQ2 (1 variant)
KCNT1 (1 variant)
KIT (1 variant)
KLHL40 (1 variant)
KLHL41 (1 variant)
KMT2A (1 variant)
KRAS (1 variant)
LAMP2 (1 variant)
LDLR (1 variant)
LDLRAP1 (2 variants)
LMNA (1 variant)
LOX (1 variant)
LRRK2 (1 variant)
LZTR1 (1 variant)M-P
MAP2K1 (1 variant)
MAP2K2 (1 variant)
MAT2A (1 variant)
MAX (1 variant)
MBD4 (2 variants)
MECP2 (1 variant)
MEFV (2 variants)
MEN1 (1 variant)
MET (1 variant)
MFAP5 (1 variant)
MITF c.952G>A (p.Glu318Lys) (1 variant)
MLH1 (1 variant)
MRAS (1 variant)
MSH2 (1 variant)
MSH3 (2 variants)
MSH6 (1 variant)
MTO1 (2 variants)
MUTYH (2 variants)
MUTYH carrier (1 variant)
MYBPC3 (1 variant)
MYH7 (1 variant)
MYH11 (1 variant)
MYL2 (1 variant)
MYL3 (1 variant)
MYL4 (1 variant)
MYLK (1 variant)
MYLK3 (1 variant)
NAA15 (1 variant)
NBN carrier (1 variant)
NEB (2 variants)
NF1 (1 variant)
NF2 (1 variant)
NFIX (1 variant)
NFKB1 (1 variant)
NGLY1 (2 variants)
NKX2-5 (1 variant)
NOTCH3 (1 variant)
NTHL1 (2 variants)
OTC (1 variant)
PALB2 (1 variant)
PCDH19 (1 variant, XX individual)
PCSK9 (1 variant)
PDGFRA (1 variant)
PHOX2B (1 variant)
PIK3CD (1 variant)
PIK3R1 (1 variant)
PKP2 (1 variant)
PLN (1 variant)
PMS2 (1 variant)
PMP22 (1 variant)
POLD1 (1 variant)
POLE (1 variant)
POLG (2 variants)
POT1 (1 variant)
PPA2 (2 variants)
PPCS (2 variants)
PPP1CB (1 variant)
PRKAG2 (1 variant)
PRKAR1A (1 variant)
PRKG1 (1 variant)
PROC (1 variant)
PROS1 (1 variant)
PRRT2 (1 variant)
PRSS1 (1 variant)
PTCH1 (1 variant)
PTEN (1 variant)
PTPN11 (1 variant)Q-Z
RAD50 carrier (1 variant)
RAD51C (1 variant)
RAD51D (1 variant)
RAF1 (1 variant)
RB1 (1 variant)
RBM20 (1 variant)
RECQL4 (2 variants)
REST (1 variant)
RET (1 variant)
RHBDF2 (1 variant)
RIT1 (1 variant)
RPE65 c.1430A_G (p.Asp477Gly) (1 variant)
RPE65 (2 variants)
RUNX1 (1 variant)
RYR1 (1 variant)
RYR2 (1 variant)
SBF1 (2 variants)
SCN1A (1 variant)
SCN2A (1 variant)
SCN5A (1 variant)
SCN8A (1 variant)
SDHA (1 variant)
SDHAF2 (1 variant)
SDHB (1 variant)
SDHC (1 variant)
SDHD (1 variant)
SERPINA1 (2 variants)
SERPINC1 (1 variant)
SGCA (2 variants)
SGCD (2 variants)
SHANK3 (1 variant)
SHOC2 (1 variant)
SKI (1 variant)
SLC13A5 (2 variants)
SLC2A1 (1 variant)
SLC2A10 (2 variants)
SLC40A1 (1 variant)
SLC6A1 (1 variant)
SMAD3 (1 variant)
SMAD4 (1 variant)
SMAD9 (1 variant)
SMARCA4 (1 variant)
SMARCB1 (1 variant)
SMARCE1 (1 variant)
SMC1A (1 variant)
SMN1 (2 variants)
SOD1 (1 variant)
SOS1 (1 variant)
SOS2 (1 variant)
SPINK1 (1 variant)
STK11 (1 variant)
STXBP1 (1 variant)
SUFU (1 variant)
SYNGAP1 (1 variant)
TAZ (1 variant, XY individual)
TBCD (2 variants)
TBL1XR1 (1 variant)
TBX4 (1 variant)
TCAP (1 variant)
TCF4 (1 variant)
TERC (1 variant)
TERT (1 variant)
TFR2 (2 variants)
TGFB2 (1 variant)
TGFB3 (1 variant)
TGFBR1 (1 variant)
TGFBR2 (1 variant)
TMEM127 (1 variant)
TMEM43 (1 variant)
TNNC1 (1 variant)
TNNI3 (1 variant)
TNNI3K (1 variant)
TNNT2 (1 variant)
TP53 (1 variant)
TP53 c.542G>A (p.Arg181His) (1 variant)
TP53 c.1000G>C (p.Gly334Arg) (1 variant)
TPM1 (1 variant)
TPM2 (1 variant)
TPP1 (2 variants)
TRDN (2 variants)
TRIM28 (1 variant)
TRIM37 (2 variants)
TRIP13 (2 variants)
TRPV6 (2 variants)
TSC1 (1 variant)
TSC2 (1 variant)
TTN (1 variant)
TTR (1 variant)
UBE3A (1 variant)
VCL (1 variant)
VHL (1 variant)
VPS13B (2 variants)
WDR45 (1 variant)
WRN (2 variants)
WT1 (1 variant)
WWOX (2 variants)
YWHAZ (1 variant)