Genomic Inform®

GI001

Genomic Inform® is a genetic screening test for healthy adults 18 years of age or older. This test identifies pathogenic and likely pathogenic variants with increased disease risk (e.g. genes related to cancer, cardiac conditions, late/adult onset disorders) and carrier status for severe, early-onset recessive disorders (autosomal or X-linked). 

This test includes genes associated with:

  • Known genetic risk factors.
  • Predispositions for cancer, cardiac diseases, or bleeding disorders.
  • Carrier status for severe and early-onset recessive disease (list below) or  variants in genes that are known to be pathogenic or likely pathogenic. 
  • Adult/late-onset neurological disorders and other conditions. 

This test does not use an individual’s clinical, personal, or family history in the assessment, reporting, and/or interpretation of variants. If a diagnostic test is preferred, please contact Variantyx for alternative analyses. 

It is recommended that you receive genetic counseling from a credentialed healthcare provider who can answer your questions about genetic testing and provide information about alternatives. Information about genetic counselors is available at https://www.nsgc.org/

Important points about the Genomic Inform® test:

  • Testing is for the individual only.
  • Diagnostic testing through Variantyx should be considered for individuals suspected to have a genetic condition.
  • We typically accept institutional billing or self-pay payment options.
  • Limitations of this carrier screen should be discussed with an appropriate healthcare professional prior to prenatal decision making. 

When an individual wants to know more about genetic predispositions and risk factors.

  • Genome-wide sequence analysis (single nucleotide variants, deletions, insertions, characterized intronic and intergenic variants)
  • Genome-wide copy number changes, including deletions, duplications, inversions, regions of homozygosity, mobile element insertions, and aneuploidy.
  • Mitochondrial genome sequence with heteroplasmy (≥5%) and large deletion analysis 
  • Carrier findings for selected genes (listed below) 
  • Short tandem repeat (STR) analysis for adult-onset movement disorders with or without cognitive involvement: AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DMPK, FMR1, FXN, HTT, JPH3, NOP56, NOTCH2NLC, PPP2R2B, TBP
  • STR analysis for early-onset intellectual disability disorder: AFF2, FMR1
  • STR analysis for adult-onset respiratory disorders with or without other neurological symptoms: PHOX2B

Cancer Related Genes:

ABRAXAS1; ANKRD26; APC; ATG2B; ATM; AXIN2; BAP1; BARD1; BLM; BMPR1A; BRCA1; BRCA2; BRIP1; CBL; CDC73; CDH1; CDK4; CDKN1B; CDKN1C; CDKN2A; CEBPA; CHEK2; CTNNA1; CTNNB1; DDX41; DICER1; EPCAM; ERCC4; ETV6; EXT1; EXT2; FH; FLCN; GATA2; GREM1; GSKIP; HOXB13; HRAS; KIT; MAX; MBD4; MECOM; MEN1; MET; MITF; MLH1; MSH2; MSH3; MSH6; MUTYH; NBN; NF1; NF2; NTHL1; PALB2; PAX5; PDGFRA; PHOX2B; PMS2; POLD1; POLE; POT1; PRKAR1A; PTCH1; PTEN; PTPN11; RAD51C; RAD51D; RB1; RECQL; RECQL4; RET; RPL5; RUNX1; SAMD9; SAMD9L; SDHA; SDHAF2; SDHB; SDHC; SDHD; SEC23B; SH2B3; SMAD4; SMARCA4; SMARCB1; SMARCE1; SOS1; SRP72; STK11; SUFU; TERC; TERT; TMEM127; TP53; TSC1; TSC2; VHL; WT1; WRN

 

Cardiovascular Disorders Related Genes: 

A2ML1; ABCC9; ACTA2; ACTC1; ACTN2; ACVRL1; AKAP9; ANK2; APOA5; APOB; BAG3; BMPR2; CACNA1C; CACNA2D1; CACNB2; CALM1; CALM2; CALM3; CASQ2; CAV1; CAV3; CBL; COL3A1; CRYAB; CSRP3; CTNNA3; DCHS1; DES; DMD; DOLK; DPP6; DSC2; DSG2; DSP; DTNA; EMD; ENG; EYA4; F2; F5; F9; FBN1; FHL1; FKTN; FLNC; GATA6; GATAD1; GDF2; GJA5; GLA; GPD1L; HCN4; JPH2; JUP; KCNA5; KCND3; KCNE1; KCNE2; KCNE3; KCNH2; KCNJ2; KCNJ5; KCNK3; KCNQ1; LAMA4; LAMP2; LDB3; LDLR; LDLRAP1; LMNA; MIB1; MYBPC3; MYH11; MYH6; MYH7; MYL2; MYL3; MYLK; MYLK2; MYOZ2; MYPN; NEXN; NKX2-5; NPPA; PCSK9; PKP2; PLN; PRDM16; PRKAG2; PRKG1; PROC; PROS1; RBM20; RYR2; SCN10A; SCN1B; SCN2B; SCN3B; SCN4B; SCN5A; SERPINC1; SGCD; SMAD3; SMAD4; SMAD9; SNTA1; SYNE1; TAZ; TBX1; TCAP; TGFB2; TGFB3; TGFBR1; TGFBR2; TMEM43; TNNC1; TNNI3; TNNT2; TPM1; TRDN; TRPM4; TTN; TTR; TXNRD2; VCL

 

Carrier Status List of Genes:

AAAS; ABCA12; ABCB11; ABCC6; ABCC8; ABCD1; ACAD8; ACAD9; ACADM; ACADS; ACADSB; ACADVL; ACAT1; ACOX1; ACSF3; ADA; ADA2; ADAMTS13; ADAMTS2; ADAR; ADGRG1; AFF2; AGA; AGL; AGPS; AGXT; AHCY; AHI1; AIRE; ALDH3A2; ALDH5A1; ALDH7A1; ALDOB; ALG6; ALMS1; ALPL; ALS2; ALX4; AMN; AMPD2; AMT; ANO5; ANOS1; AP1S1; AP3B1; AQP2; AR; ARG1; ARL13B; ARMC9; ARSA; ARSB; ARSL; ASAH1; ASL; ASNS; ASPA; ASPM; ASS1; ATM; ATP13A2; ATP6V0A2; ATP6V1B1; ATP7A; ATP7B; ATP8B1; ATR; ATRX; B3GALNT2; B4GAT1; B9D1; BBS1; BBS10; BBS12; BBS2; BBS4; BBS7; BBS9; BCKDHA; BCKDHB; BCS1L; BLM; BMP1; BSND; BTD; BTK; CANT1; CAPN3; CBS; CC2D2A; CCN6; CDH23; CEP104; CEP120; CEP290; CEP41; CERKL; CFTR; CHAT; CHM; CHRNA1; CHRND; CHRNE; CHRNG; CHST3; CIITA; CIT; CLCN5; CLN3; CLN5; CLN6; CLN8; CLRN1; CNGA3; CNGB3; CNTNAP1; CNTNAP2; COL17A1; COL1A2; COL27A1; COL4A3; COL4A4; COL4A5; COL6A1; COL6A2; COL6A3; COL7A1; COLQ; COX10; CPLANE1; CPS1; CPT1A; CPT2; CRB1; CRPPA; CRTAP; CSPP1; CTNS; CTSD; CTSK; CUL4B; CYBA; CYBB; CYP11B1; CYP11B2; CYP17A1; CYP19A1; CYP1B1; CYP27A1; CYP27B1; DAG1; DBT; DCLRE1C; DHCR7; DHDDS; DHH; DKC1; DLD; DLG3; DLL3; DMD; DMPK; DMXL2; DNAH5; DNAI1; DNAI2; DOK7; DPYD; DUOX2; DYM; DYNC2H1; DYNC2I2; DYSF; EBP; ECEL1; EDA; EDAR; EDN3; EDNRB; EGR2; EIF2AK3; EIF2B5; ELP1; EMD; EPM2A; ERCC2; ERCC3; ERCC4; ERCC5; ERCC6; ERCC8; ESCO2; ETFA; ETFB; ETFDH; ETHE1; EVC; EVC2; EXOSC3; EYS; F11; F2; F5; F8; F9; FAH; FAM161A; FANCA; FANCB; FANCC; FANCD2; FANCG; FGD1; FGD4; FH; FIG4; FKBP10; FKRP; FKTN; FMR1; FOXP3; FOXRED1; FXN; G6PC1; G6PD; GAA; GALC; GALE; GALK1; GALNS; GALNT3; GALT; GAMT; GBA; GBE1; GCDH; GCH1; GDAP1; GDF5; GFM1; GFPT1; GH1; GJA1; GJB1; GJB2; GJB3; GJB6; GK; GLA; GLB1; GLDC; GLE1; GMPPB; GNAT2; GNE; GNPAT; GNPTAB; GNPTG; GNS; GORAB; GP1BA; GP9; GPC3; GRHPR; GRIA3; GRIP1; GUCY2D; GUSB; HADH; HADHA; HADHB; HAX1; HBB; HCFC1; HEPACAM; HESX1; HEXA; HEXB; HGD; HGSNAT; HJV; HK1; HLCS; HMGCL; HOGA1; HPD; HPRT1; HPS1; HPS3; HPS4; HPS5; HPS6; HSD17B3; HSD17B4; HSD3B2; HSPG2; HYLS1; IDS; IDUA; IFT172; IGF1R; IGHMBP2; IL1RAPL1; IL2RG; INPP5E; INPPL1; INSR; INVS; ITGA7; ITGB3; ITGB4; IVD; JAK3; KATNB1; KCNJ1; KCNJ11; KCNQ1; KCTD7; KDM5C; KIAA0586; KIF7; KLHL40; L1CAM; LAMA2; LAMA3; LAMB1; LAMB3; LAMC2; LARGE1; LCA5; LDLR; LDLRAP1; LGI4; LHCGR; LHX3; LIFR; LIPA; LMBRD1; LMNA; LMOD3; LOXHD1; LPL; LRPPRC; LSS; LYRM7; LYST; MAN2B1; MAOA; MAT1A; MCCC1; MCCC2; MCOLN1; MECP2; MED12; MED17; MEFV; MESP2; MFN2; MFSD8; MID1; MKKS; MKS1; MLC1; MLYCD; MMAA; MMAB; MMACHC; MMADHC; MMUT; MOCS1; MPI; MPL; MPV17; MPZ; MRE11; MTFMT; MTHFR; MTM1; MTR; MTRR; MTTP; MUSK; MVK; MYO15A; MYO7A; NAGLU; NAGS; NBN; NCF1; NDE1; NDRG1; NDUFA10; NDUFAF1; NDUFAF2; NDUFAF3; NDUFAF5; NDUFAF6; NDUFS1; NDUFS2; NDUFS4; NDUFS6; NDUFS7; NDUFS8; NDUFV1; NDUFV2; NEB; NEK1; NEU1; NHLRC1; NPC1; NPC2; NPHP1; NPHP3; NPHP4; NPHS1; NPHS2; NR0B1; NR2E3; NRXN1; NTRK1; OAT; OCA2; OCRL; OFD1; OPA3; OPHN1; OTC; P3H1; PAH; PANK2; PAX3; PC; PCBD1; PCCA; PCCB; PCDH15; PDE6C; PDHA1; PDHB; PEPD; PEX1; PEX10; PEX12; PEX13; PEX16; PEX2; PEX26; PEX3; PEX5; PEX6; PEX7; PFKM; PHF6; PHGDH; PIGN; PKHD1; PKLR; PLA2G6; PLEC; PLEKHG5; PLOD1; PLOD2; PLP1; PMM2; PMP22; PNPO; POLG; POLR1C; POLR1D; POMGNT1; POMGNT2; POMT1; POMT2; POP1; POR; POU1F1; PPIB; PPT1; PQBP1; PREPL; PROP1; PRPS1; PRX; PSAP; PSAT1; PTS; PUS1; PYGM; QDPR; RAB23; RAG1; RAG2; RAPSN; RARS2; RBM10; RDH12; RIPK4; RMRP; RNASEH2A; RNASEH2B; RNASEH2C; ROR2; RP2; RPE65; RPGRIP1L; RPL10; RPS6KA3; RS1; RTEL1; RXYLT1; RYR1; SACS; SAMHD1; SBDS; SBF2; SCN5A; SCNN1A; SCNN1B; SCNN1G; SDHA; SDHAF1; SELENON; SEPSECS; SERAC1; SERPINA1; SGCA; SGCB; SGCG; SGSH; SH2D1A; SH3TC2; SIL1; SIX6; SLC12A1; SLC12A3; SLC12A6; SLC16A2; SLC17A5; SLC19A2; SLC19A3; SLC22A5; SLC25A12; SLC25A13; SLC25A15; SLC25A20; SLC25A4; SLC26A2; SLC26A3; SLC26A4; SLC2A1; SLC35A3; SLC35D1; SLC37A4; SLC39A4; SLC3A1; SLC45A2; SLC4A11; SLC5A5; SLC6A8; SLC7A7; SLC7A9; SLC9A6; SMARCAL1; SMN1; SMPD1; SMS; SOST; SRD5A2; ST3GAL5; STAR; STS; SUCLA2; SUFU; SUMF1; SUOX; SURF1; TAT; TAZ; TBCE; TCAP; TCIRG1; TCN2; TCTN1; TCTN2; TCTN3; TECPR2; TERT; TG; TGM1; TH; TIMM8A; TMEM138; TMEM216; TMEM231; TMEM237; TMEM67; TMEM70; TNNI3; TNNT1; TNXB; TP53; TPM3; TPO; TPP1; TREX1; TRIM32; TRIM37; TRIP11; TRMU; TSEN54; TSFM; TSHB; TSHR; TTC19; TTC21B; TTC37; TTC8; TTN; TTPA; TYMP; TYR; TYRP1; UBR1; UGT1A1; UNC13D; UPF3B; UROS; USH1C; USH1G; USH2A; VAPB; VHL; VLDLR; VPS13A; VPS13B; VRK1; VSX2; VWF; WAS; WDR35; WDR62; WNT10A; WNT7A; WRN; XIAP; XPA; XPC; ZDHHC9; ZFYVE26; ZIC3; ZMPSTE24

SNVs and insertions/deletions up to 50bp:
99.1% sensitivity
99.2% positive predictive value

Structural variants:
96% clinical sensitivity

Mitochondrial variants:
Reported when heteroplasmy is ≥5%

Short tandem repeats:
Due to the variable nature of repetitive sequences and sequence specific differences in detection, repeat evaluation and orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.

This test is not reimbursable by insurance payers.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Please contact customer service for turnaround time.

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If you need to submit Protected Health Information (PHI), please call us at 617-209-2090 and we will work with you to submit the information through an alternate mechanism.

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