Test Menu
Condition
Test Name
Retinal degeneration gene panel[Expedited TAT]
Inclusive Genes
ABCA4, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, AHI1, AIPL1, ALMS1, ARL2BP, ARL6, ATF6, ATOH7, BBIP1, BBS1, BBS1, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2ORF197, C21orf2, C2orf71, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP164, CEP25, CEP29, CERKL, CFH, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COG4, COG6, COL11A1, COL2A1, COL9A1, CRB1, CRX, CSPP1, CYP4V2, DFNB31, DHDDS, DHX38, DRAM2, DTHD1, EFEMP1, ELOVL4, EMC1, EYS, FAM161A, FBLN5, FLVCR1, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNPTG, ADGRA3, GPR179, ADGRV1, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMCN1, IDH3B, IFT14, IFT172, IFT27, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, ITM2B, JAG1, KCNJ13, KCNV2, KIAA1549, KIF11, KLHL7, LAMA1, LCA5, P3H2, LRAT, LRIT3, LRP5, LZTFL1, MAK, MERTK, MFRP, MKKS, MKS1, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PGK1, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC38A8, SLC7A14, SNRNP2, SPATA7, SPP2, TEAD1, TIMP3, TMEM126A, TMEM216, TMEM67, TOPORS, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBGCP4, TUBGCP6, TULP1, UNC119, USH1C, USH1G, USH2A, VCAN, WDPCP, WDR19, ZNF48, ZNF513
Specimen Type
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid/ Dried Blood Spots (FTA Cards)/ Product of Conception (POC)