Casandra Test Code VA97318Version 1 (DRAFT)
Lab VariantyxLab Test ID NR004CPT Codes 81404, 81405, 81406, 81407, 81419 Genomic Unity® Epilepsy Analysis
Use
Genomic Unity® Epilepsy Analysis is designed to identify genetic variants responsible for seizures, regardless of the presence of other symptoms. It provides a comprehensive analysis of over 380 genes associated with epileptic seizures, aiming to detect major clinically relevant variant types from a single sample. This analysis consolidates various test methodologies, offering a unified clinical report which includes targeted gene panel analysis, single gene analysis, and tests for specific sequence expansions.
Special Instructions
Not provided.
Limitations
This test does not provide full coverage for some genes, which may limit the detection of pathogenic variants. These include ALG13, ARX, ATP6AP2, CACNA1A, and others. Regions within PRODH and TUBB2B are non-unique, which may compromise variant assignment accuracy. STRs are not reported in certain genes like AFF3, CACNA1A, and others. Sensitivity for SNVs is 99.9%, while the structural variants have a sensitivity of 96%. The false negative rate for repeat expansions remains undetermined, highlighting potential limitations in expansions detection.
Methodology
Biomarkers
SNV (388 genes)
AARS1ABATABCD1ACY1ADARADGRG1ADGRV1ADSLAFF2AFF3AFG3L2AGAAIFM1AIMP1ALDH3A2ALDH5A1ALDH7A1ALG13ALG9ALPLAMACRAMTANKRD11AP2M1AP4B1AP4E1AP4M1AP4S1ARFGEF2ARG1ARHGEF9ARSAARV1ARXASAH1ASNSASPAASPMATP13A2ATP1A2ATP1A3ATP2A2ATP6AP2ATP6V0A2ATRXBCKDKBRAT1BTDC12ORF57CACNA1ACACNA1HCACNA2D2CARS2CASKCC2D1ACDKL5CERS1CHD2CHRNA2CHRNA4CHRNB2CLCN4CLN3CLN5CLN6CLN8CNTN2CNTNAP2COA8COL4A1COX15COX6B1CSF1RCSTBCTC1CTNNB1CTSDCTSFCUL4BCUX2CYFIP2CYP27A1D2HGDHDARS1DARS2DCXDDX3XDEAF1DEPDC5DHFRDIP2BDNAJC5DNM1DOCK7DPYDDPYSDYNC1H1DYRK1AEARS2ECHS1ECM1EEF1A2EHMT1EIF2B1EIF2B2EIF2B3EIF2B4EIF2B5EMX2EPM2AETFDHETHE1FA2HFAM126AFAR1FARS2FGD1FGF12FGFR3FHFKRPFKTNFLNAFMR1FOLR1FOXG1FOXRED1FRRS1LGABBR2GABRA1GABRB2GABRB3GABRDGABRG2GALCGAMTGATMGCDHGCH1GCSHGFAPGFM1GJC2GLB1GLDCGLRA1GLSGLULGNAO1GNB1GNEGOSR2GPC3GPHNGRIA3GRIK2GRIN1GRIN2AGRIN2BGRIN2DGRNGTPBP3GUF1HACE1HCN1HCN4HECW2HEPACAMHIBCHHNRNPUHPRT1HSD17B10HSPB1HTRA1IBA57IER3IP1IQSEC2IRF2BPLITPAJMJD1CKANSL1KCNA1KCNA2KCNB1KCNC1KCNH1KCNH5KCNJ10KCNJ11KCNMA1KCNQ2KCNQ3KCNT1KCTD17KCTD7KDM5CKDM6AKIF1AKIFBPKLHL20KMT2DL2HGDHLAMA2LARGE1LGI1LIASLMNB1LMNB2LRPPRCMBD5MCPH1MECP2MED12MEF2CMFSD8MLC1MOCS1MRPL44MTFMTMTORNACC1NALCNNDE1NDUFA1NDUFAF5NDUFAF6NDUFS2NDUFS4NDUFS7NDUFS8NDUFV1NECAP1NEDD4LNEU1NEXMIFNFU1NGLY1NHLRC1NIPBLNOTCH3NPRL2NPRL3NR2F1NRXN1NUBPLNUS1OFD1OPHN1PAFAH1B1PAK3PCDH19PEX7PGK1PHF6PHGDHPIGAPIGNPIGOPIGTPIGVPLCB1PLP1PNKDPNKPPNPOPOLGPOLR3APOLR3BPOMGNT1POMT1POMT2PPP2R5DPPT1PQBP1PRICKLE2PRIMA1PRODHPRRT2PSAPPTSPURAPYCR2QARS1QDPRRAB39BRAB3GAP1RAI1RANBP2RARS1RELNRHOBTB2RMND1RNASEH2ARNASEH2BRNASEH2CRNASET2RNF216ROGDIRORBSAMHD1SATB2SCARB2SCN1ASCN1BSCN2ASCN3ASCN5ASCN8ASCO1SDHAF1SEMA6BSERAC1SERPINI1SETBP1SETD2SGCESHHSIX3SLC12A5SLC13A5SLC19A3SLC1A2SLC25A1SLC25A12SLC25A15SLC25A19SLC25A22SLC2A1SLC35A2SLC39A8SLC46A1SLC4A10SLC6A1SLC6A8SLC9A6SMC1ASMC3SMSSNORD118SOX10SPATA5SPTAN1ST3GAL3ST3GAL5STILSTRADASTX1BSTXBP1SUCLA2SUMF1SUOXSYN1SYNGAP1SYNJ1SZT2TBC1D24TBCDTBCETBCKTBL1XR1TBX1TCF4TFCP2TK2TPK1TPP1TREX1TSC1TSC2TSEN54TTC19TUBA1ATUBA8TUBB2BTUBB4AUBA5UBE2AUBE3AUNC80VPS13AVPS13BWDR26WDR45WDR62WWOXYY1ZEB2ZFYVE26
Result Turnaround Time
Related Documents
For more information, please review the documents below
Volume