Genomic Inform®

GI001

Genomic Inform® is a genetic screening test for generally healthy individuals, 18 years of age or older.

Test Description

Genomic Inform™ is a genetic screening test that uses a whole genome platform to identify pathogenic and likely pathogenic variants in nuclear and mitochondrial genes that put an individual at a higher risk of developing a genetic disorder. This test includes genes that are medically actionable as recommended by the American College of Medical Genetics and Genomics (ACMG), genetic risk factors, predisposition to cancer and cardiac diseases, bleeding disorders, adult/late onset neurological disorders, and other conditions. It also identifies variants that result in carrier status in a set of selected genes associated with severe and early-onset recessive disease (see below).

Genomic Inform™ sequences and analyzes the entirety of included genes. In comparison, most other wellness tests only sequence and analyze targeted regions of the gene, typically exons and selected intronic regions. Having the full gene sequence allows us to detect all clinically relevant variant types with high specificity and sensitivity.

When to Order

Order this test when:

  • A healthy individual 18 years of age or older wants to know more about their genetic predisposition and risk factors for genetic disease.
  • For individuals suspected of having a genetic condition, diagnostic testing through Variantyx should be considered instead.

Included Genes

Carrier status genes:
AAAS, ABCA12, ABCB11, ABCC6, ABCC8, ABCD1, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADAMTS13, 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, ARSE, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ATM, ATP6V0A2, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATP13A2, ATR, ATRX, B3GALNT2, B4GAT1, B9D1, BBS1, BBS2, BBS4, BBS7, BBS9, BBS10, BBS12, BCKDHA, BCKDHB, BCS1L, BLM, BMP1, BSND, BTD, BTK, C5ORF42, CANT1, CAPN3, CBS, CC2D2A, CDH23, CECR1, CEP41, CEP104, CEP120, CEP290, CERKL, CFTR, CHAT, CHM, CHRNA1, CHRND, CHRNE, CHRNG, CHST3, CIITA, CIT, CLCN5, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA3, CNGB3, CNTNAP1, CNTNAP2, COL1A2, COL4A3, COL4A4, COL4A5, COL6A1, COL6A2, COL6A3, COL7A1, COL17A1, COL27A1, COLQ, COX10, CPS1, CPT1A, CPT2, CRB1, CRTAP, CSPP1, CTNS, CTSD, CTSK, CUL4B, CYBA, CYBB, CYP1B1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP27A1, CYP27B1, DAG1, DBT, DCLRE1C, DHCR7, DHDDS, DHH, DKC1, DLD, DLG3, DLL3, DMD, DMPK, DMXL2, DNAH5, DNAI1, DNAI2, DOK7, DPYD, DUOX2, DYM, DYNC2H1, DYSF, EBP, ECEL1, EDA, EDAR, EDN3, EDNRB, EGR2, EIF2AK3, EIF2B5, EMD, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYS, F2, F5, F8, F9, F11, FAH, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCG, FGD1, FGD4, FH, FIG4, FKBP10, FKRP, FKTN, FMR1, FOXP3, FOXRED1, FXN, G6PC, 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, HFE2, HGD, HGSNAT, HK1, HLCS, HMGCL, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD3B2, HSD17B3, HSD17B4, HSPG2, HYLS1, IDS, IDUA, IFT172, IGF1R, IGHMBP2, IKBKAP, IL1RAPL1, IL2RG, INPP5E, INPPL1, INSR, INVS, ISPD, 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, MOCS1, MPI, MPL, MPV17, MPZ, MRE11A, MTFMT, MTHFR, MTM1, MTR, MTRR, MTTP, MUSK, MUT, MVK, MYO7A, MYO15A, 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, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX12, PEX13, PEX16, PEX26, 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, RYR1, SACS, SAMHD1, SBDS, SBF2, SCN5A, SCNN1A, SCNN1B, SCNN1G, SDHA, SDHAF1, SEPN1, SEPSECS, SERAC1, SERPINA1, SGCA, SGCB, SGCG, SGSH, SH2D1A, SH3TC2, SIL1, SIX6, SLC2A1, SLC3A1, SLC4A11, SLC5A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SLC12A1, SLC12A3, SLC12A6, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A4, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A3, SLC26A4, SLC35A3, SLC35D1, SLC37A4, SLC39A4, SLC45A2, SMARCAL1, SMN1, SMN2, 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, TMEM5, TMEM67, TMEM70, TMEM138, TMEM216, TMEM231, TMEM237, TNNI3, TNNT1, TNXB, TP53, TPM3, TPO, TPP1, TREX1, TRIM32, TRIM37, TRIP11, TRMU, TSEN54, TSFM, TSHB, TSHR, TTC8, TTC19, TTC21B, TTC37, TTN, TTPA, TYMP, TYR, TYRP1, UBR1, UGT1A1, UNC13D, UPF3B, UROS, USH1C, USH1G, USH2A, VAPB, VHL, VLDLR, VPS13A, VPS13B, VRK1, VSX2, VWF, WAS, WDR34, WDR35, WDR62, WISP3, WNT7A, WNT10A, WRN, XIAP, XPA, XPC, ZDHHC9, ZFYVE26, ZIC3, ZMPSTE24

Included Analyses

  • Genome-wide sequence analysis (single nucleotide variants, deletions, insertions, characterized intronic and intergenic variants).
  • Genome-wide copy number changes, including deletions, duplications, inversions, mobile element insertions, and aneuploidy.
  • Mitochondrial genome sequence analysis with heteroplasmy (≥5%) and large deletion analysis.
  • Repeat expansion 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, and TCF4. (Learn more).
  • Repeat expansion analysis for early-onset intellectual disability disorders: AFF2, DIP2B, and FMR1. (Learn more).
  • Repeat expansion analysis for other disorders: PHOX2B. (Learn more).

Turnaround Time

A report will be issued within 10-12 weeks from receipt of required samples.

Sample Types

CPT Codes

This test is not reimbursable by insurance payers.

Methods and Limitations

Genomic Inform™ uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
99.9% sensitivity
100% specificity
99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Mitochondrial variants:
Heteroplasmy is not reported for large deletions and duplications are not detected. The false negative rate for mitochondrial large deletions has not been determined.

Short tandem repeats:
The false negative rate for repeat expansions has not been determined.

Test limitations:
This testing is not a substitute for a carrier screening test and should not be used for prenatal decision making.