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Albinism Cone-‐Rod Dystrophy Submit this form along with the appropriate UNIVERSITY OF MINNESOTA PHYSICIANS OUTREACH LABS Molecular requisition (Molecular Diagnostics or MOLECULAR DIAGNOSTICS (612) 273-8445 Molecular NGS Oncology). DATE: TIME COLLECTED: PCU/CLINIC: AM PM PATIENT IDENTIFICATION DIAGNOSIS (Dx) / DIAGNOSIS CODES (ICD-9) - OUTPATIENTS ONLY SPECIMEN TYPE: o Blood (1) (2) (3) (4) PLEASE COLLECT 5-10CC IN ACD-A OR EDTA TUBE ORDERING PHYSICIAN NAME AND PHONE NUMBER: Tests can be ordered as a full panel, or by individual gene(s). Please contact the genetic counselor with any questions at 612-624-8948 or by pager at 612-899-3291. _______________________________________________ Test Ordered- EPIC: Next generation sequencing(Next Gen) Sunquest: NGS CRYBA4 CRYBB2 Cone-rod dystrophy Albinism VIM Cone-rod dystrophy-Autosomal CHMP4B dominant Chediak-Higashi syndrome BFSP1 Full panel LYST TDRD7 GUCA1A Hermansky Pudlak AGK AIPL1 Full panel CRYGB PRPH2 HPS1 CRYGD UNC119 AP3B1 NHS SEMA4A HPS3 HSF4 PROM1 HPS4 EPHA2 PITPNM3 HPS5 CRYAA GUCY2D HPS6 RIMS1 DTNBP1 Coloboma/microphthalmia CRX BLOC1S3 Full panel Cone-rod dystrophy-Autosomal BLOC1S6 CHD7 recessive Ocular albinism, type I PAX6 Full panel GPR143 PITX2 CNGB3 Oculocutaneous Albinism FOXC1 PDE6C Full panel MAF CERKL TYR SIX6 RAX2 OCA2 RAX RPGRIP1 MC1R GDF6 CDHR1 TYRP1 MFRP C8orf37 SLC45A2 PRSS56 RAB28 SLC24A5 SHH ABCA4 C10orf11 VSX2 ADAM9 GDF3 RDH5 Cataract ABCB6 CNNM4 Full panel VAX1 PDE6H SLC16A12 BCOR KCNV2 GJA8 SOX2 CACNA2D4 CRYBA1 OTX2 Cone-rod dystrophy-X-linked PITX3 HCCS Full panel GJA3 PAX2 RPGR MIP RS1 CACNA1F CRYAB TFAP2A FYCO1 CHD7 LIM2 STRA6 CRYGC CYP1B1 CRYGS C12orf57 MAF CRYBB3 4/1/2014 Version 1 Age-related macular degeneration Cong. Stationary Night Blindness Full panel Retinitis pigmentosa Full panel HMCN1 Retinitis pigmentosa-dominant RDH5 TLR4 Full panel NYX CST3 AIPL1 GRM6 CX3CR1 CRX TRPM1 CFI GUCA1A SLC24A1 C2 RDH12 GPR179 CFB RPE65 CACNA1F ABCA4 RP1 CABP4 FBLN5 IMPDH1 RHO CFH PRPF31 PDE6B ERCC6 PRPF8 GNAT1 RAX2 CA4 SAG HTRA1 PRPF3 GRK1 ARMS2 NRL Corneal dystrophy C3 FSCN2 Full panel Macular degeneration TOPORS DCN Full panel SNRNP200 COL8A2 BEST1 SEMA4A TGFBI EFEMP1 NR2E3 ZEB1 RPGR RHO AGBL4 PRPH2 KLHL7 TACSTD2 ELOVL4 GUCA1B VSX1 PROM1 PRPF6 UBIAD1 RP1L1 PRPH2 SLC4A11 C1QTNF5 ROM1 PIKFYVE TIMP3 RP9 CHST6 Optic atrophy PDE6B KRT12 Full panel BEST1 KRT3 MFN2 Retinitis pigmentosa-recessive Primary open angle glaucoma TIMM8A Full panel Full panel OPA1 RLBP1 NTF4 OPA3 CEP290 WDR36 TMEM126A RD3 MYOC Peters anomaly TULP1 LTBP2 Full panel ABCA4 ASB10 CYP1B1 RPE65 Leber Congenital Amaurosis PAX6 EYS Full panel PITX2 CERKL IQCB1 B3GALTL FAM161A GUCY2D Progressive external ophthalmoplegia PRCD CEP290 Full panel NR2E3 IMPDH1 OPA1 MERTK RD3 POLG USH2A RDH12 SLC25A4 RHO LRAT POLG2 PROM1 TULP1 RRM2B PDE6A KCNJ13 c10orf2 RGR RPE65 CNGB1 SPATA7 IDH3B AIPL1 SAG LCA5 CNGA1 RPGRIP1 TTC8 CRX C2orf71 CRB1 ARL6 NMNAT1 IMPG2 CABP4 PDE6G 4/1/2014 Version 1 ZNF513 comedogenic acne syndrome Microcephaly with or without DHDDS RBP4 chorioretinopathy, lymphedema, or CLRN1 Retinoschisis mental retardation MAK RS1 KIF11 C8orf37 Vitreoretinochoroidopathy Microcornea, myopic chorioretinal CDHR1 BEST1 atrophy, and telecanthus RBP3 Retinopathy of prematurity / FEVR ADAMTS18 CRB1 Full panel Mohr-Tranebjaerg syndrome PDE6B FZD4 TIMM8A LRAT LRP5 Mucolipidosis III gamma SPATA7 NDP GNPTG Retinits Pigmentosa-X linked TSPAN12 Nephronophthisis 13 Full panel WDR19 RP2 Nephronophthisis 2, infantile RPGR Syndromic retinal INVS Optic atrophy 3 with cataract disease OPA3 Retinopathy Alstrom syndrome Peroxisomal disease Aland Island eye disease ALMS1 Full panel CACNA1F Ataxia with isolated vitamin E PEX1 Bietti crystalline corneoretinal deficiency PEX2 dystrophy TTPA PEX7 CYP4V2 Ataxia, posterior column, with retinitis PHYH Blue cone monochromacy pigmentosa PKAN OPN1LW FLVCR1 PANK2 OPN1MW Bardet-Biedl syndrome 1 Pseudoxanthoma elasticum Bothnia retinal dystrophy / Full panel ABCC6 Newfoundland rod-cone dystrophy BBS1 Renal Coloboma syndrome RLBP1 BBS10 PAX2 Bradyopsia TRIM32 Senior-Loken syndrome RGS9 BBS12 NPHP4 RGS9BP MKS1 IQCB1 Choroideremia CEP290 SDCCAG8 OPN1SW WDPCP Snowflake vitreoretinal degeneration Duchenne muscular dystrophy SDCCAG8 KCNJ13 DMD BBS2 Stickler syndrome Ectodermal dysplasia, ectrodactyly, ARL6 COL2A1 and macular dystrophy BBS4 COL11A1 CDH3 BBS5 COL9A1 Enhanced S-cone syndrome MKKS Syndromic retinal disease NR2E3 BBS7 ACBD5 Fleck retina, familial benign TTC8 Usher syndrome PLA2G5 BBS9 Full Panel Gyrate atrophy of choroid and retina Ceroid lipofuscinosis, neuronal, 3 MYO7A with or without ornithinemia CLN3 USH1C OAT Charcot-Marie-Tooth disease, type CDH23 Jalili syndrome 2A2 PCDH15 CNNM4 MFN2 USH1G Macular dystrophy, retinal, 2 Deafness, congenital heart defects, CIB2 PROM1 and posterior embryotoxon USH2A Nanophthalmos 2 JAG1 GPR98 MFRP Mainzer-Saldino syndrome PDZD7 Pigmented paravenous chorioretinal IFT140 DFNB31 atrophy Meckel syndrome 7 CLRN1 CRB1 NPHP3 HARS Retinoblastoma Mental retardation, truncal obesity, van Buchem disease RB1 retinal dystrophy, and micropenis LRP5 Retinol dystrophy, iris coloboma, and INPP5E 4/1/2014 Version 1 Vasculopathy, retinal, with cerebral leukodystrophy TREX1 Wagner syndrome 1 VCAN Wolfram syndrome WFS1 4/1/2014 Version 1 .
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