Casandra Test Code VA80616 Version 1 (DRAFT)
Genomic Inform®
Use Genomic Inform® is a genetic screening test using a whole genome platform to identify pathogenic and likely pathogenic variants in nuclear and mitochondrial genes that put individuals at a higher risk of developing genetic disorders. It covers medically actionable genes, genetic risk factors, predispositions to cancer and cardiac diseases, bleeding disorders, adult/late-onset neurological disorders, and more, while also identifying carrier status for early-onset recessive diseases.
Special Instructions Not provided.
Limitations APOE genotype is informational only; interpretation is not attached. Genes such as CBS, GBA, KCNE1, NCF1, NEB, PMS2, SMN1, TNX, and TTN are not fully covered, which limits variant detection. Non-unique regions in some genes may impede correct variant assignment. The test does not discern silent carriers for the SMN1 copy number, and is not designed for prenatal decision-making.
Methodology BiomarkersSNV (877 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 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 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
Result Turnaround Time Related DocumentsFor more information, please review the documents below
Whole Blood Saliva Extracted DNA