Casandra Test Code VA38060 Version 1 (DRAFT)
Lab Variantyx Lab Test ID UO002 CPT Codes 81434, 81460, 81465 Genomic Unity® Retinal Disorders Analysis
Use Genomic Unity® Retinal Disorders Analysis is a diagnostic test designed to identify genetic variants causing retinal disorders. It uses a whole genome sequencing platform to detect all major clinically relevant variant types, focusing on 357 nuclear genes and mitochondrial genome analysis. The test replaces various assays like targeted gene panel and multiplex ligation-dependent probe amplification, eliminating separate testing for mitochondrial genes.
Special Instructions Not provided.
Limitations The test does not fully cover the CACNA1F, LRP5, RPGR (exon 15), USH1C (intron 5 VNTR EXP[9] polymorphism), and ATXN7 genes, which may result in undetected pathogenic variants. Sensitivity for mitochondrial large deletions and repeat expansions are not fully determined.
SNV (394 genes)
ABCA4 ABCC6 ABCD1 ABHD12 ACBD5 ACO2 ADAM9 ADAMTS18 ADAMTSL4 ADGRA3 ADGRV1 ADIPOR1 AGBL5 AHI1 AHR AIPL1 ALMS1 AMACR ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARR3 ARSG ASRGL1 ATF6 ATOH7 ATXN7 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 C1QTNF5 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CC2D2A CCT2 CDH23 CDH3 CDHR1 CEP104 CEP120 CEP164 CEP19 CEP250 CEP290 CEP41 CEP78 CEP83 CERKL CFAP410 CFAP418 CHM CISD2 CLCC1 CLN3 CLN5 CLN6 CLN8 CLRN1 CLUAP1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL11A1 COL11A2 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 COQ2 CPE CPLANE1 CRB1 CRPPA CRX CSPP1 CTC1 CTNNA1 CTNNB1 CTSD CWC27 CYP4V2 DHDDS DHX32 DHX38 DNAJC17 DNAJC5 DRAM2 DSCAML1 DTHD1 DYNC2H1 DYNC2I2 EFEMP1 ELOVL4 EMC1 ERCC6 ESPN EXOSC2 EYS FAM161A FBLN5 FDXR FLVCR1 FRMD7 FSCN2 FZD4 GDF6 GNAT1 GNAT2 GNB3 GNPTG GNS GPR143 GPR179 GPR45 GRK1 GRM6 GRN GUCA1A GUCA1B GUCY2D HGSNAT HK1 HMCN1 HMX1 IDH3A IDH3B IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IFT81 IFT88 IMPDH1 IMPG1 IMPG2 INPP5E INVS IQCB1 ITM2B JAG1 KATNIP KCNJ13 KCNV2 KIAA0586 KIAA0753 KIAA1549 KIF11 KIF7 KIZ KLHL7 LAMA1 LCA5 LRAT LRIT3 LRMDA LRP2 LRP5 LYST LZTFL1 MAK MAPKAPK3 MERTK MFN2 MFRP MFSD8 MIR204 MKKS MKS1 MMACHC MPDZ MTPAP MTRFR MTTP MVK MYO7A NAGLU NBAS NDP NEK2 NEUROD1 NMNAT1 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NRL NYX OAT OCA2 OFD1 OPA1 OPA3 OPN1SW OTX2 P3H2 PANK2 PAX2 PAX6 PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDSS1 PDSS2 PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PISD PITPNM3 PLA2G5 PLK4 PNPLA6 POC1B POC5 POMGNT1 PPT1 PRCD PRDM13 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 RAB28 RAX2 RBP1 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RS1 RTN4IP1 SAG SAMD11 SCAPER SCLT1 SDCCAG8 SEMA4A SGSH SIX6 SLC24A1 SLC24A5 SLC25A46 SLC45A2 SLC7A14 SNRNP200 SPATA7 SPP2 SRD5A3 TCTN1 TCTN2 TCTN3 TEAD1 TIMM8A TIMP3 TMED7 TMEM107 TMEM126A TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TOPORS TPP1 TRAF3IP1 TREX1 TRIM32 TRNT1 TRPM1 TSPAN12 TTC21B TTC8 TTLL5 TTPA TUB TUBB4B TUBGCP4 TUBGCP6 TULP1 TYR TYRP1 UNC119 USH1C USH1G USH2A VCAN VPS13B WDPCP WDR19 WFS1 WHRN YME1L1 ZNF408 ZNF423 ZNF513 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-RNR2 MT-TA MT-TC MT-TD MT-TE MT-TF MT-TG MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TM MT-TN MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY
For more information, please review the documents below
Whole Blood Saliva Extracted DNA
Methodology
Biomarkers
Result Turnaround Time
Related Documents
Volume
Collection Instructions