ARUP Laboratories, Cytogenetics and Genomic Microarray (ARUP Laboratories)
General information
ARUP Laboratories, Cytogenetics and Genomic Microarray
ARUP Laboratories
Salt Lake City
Utah
United States
http://www.aruplab.com/genetics
Organization ID: 319864
ARUP Laboratories
Salt Lake City
Utah
United States
http://www.aruplab.com/genetics
Organization ID: 319864
Personnel
- Erica Andersen, Medical Director
Phone: 801-583-2787
Email: erica.f.andersen@aruplab.com - Zoe Lewis, Genetic Counselor
Phone: 801-583-2787
Email: zoe.lewis@aruplab.com - Denise Quigley, Medical Director
Phone: 801-583-2787
Email: denise.quigley@aruplab.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2595
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAGAB | 1 | Mar 14, 2024 |
| ABCC6 | 3 | Mar 14, 2024 |
| ABCC9 | 2 | Mar 14, 2024 |
| ACTN1 | 1 | Mar 28, 2022 |
| ADAMTS17 | 1 | Mar 28, 2022 |
| ADGRB3 | 1 | Mar 28, 2022 |
| AFG2A | 3 | Mar 14, 2024 |
| AGAP1 | 1 | Mar 14, 2024 |
| AGBL1 | 2 | Mar 14, 2024 |
| AGBL4 | 1 | Mar 14, 2024 |
| AGL | 1 | Mar 28, 2022 |
| AGMO | 1 | Mar 14, 2024 |
| AHI1 | 2 | Mar 28, 2022 |
| ALDH1A2 | 1 | Mar 28, 2022 |
| ANK2 | 1 | Mar 28, 2022 |
| ANKRD11 | 4 | Mar 14, 2024 |
| ANOS1 | 1 | Mar 14, 2024 |
| AP1S3 | 1 | Mar 14, 2024 |
| ARHGEF28 | 1 | Mar 28, 2022 |
| ARID2 | 1 | Mar 28, 2022 |
| ASPH | 1 | Mar 28, 2022 |
| ASTN2 | 16 | Mar 14, 2024 |
| ATG7 | 1 | Mar 14, 2024 |
| ATXN1 | 1 | Mar 28, 2022 |
| ATXN7 | 1 | Mar 14, 2024 |
| AUTS2 | 4 | Mar 28, 2022 |
| BBS9 | 2 | Mar 14, 2024 |
| BCAS3 | 2 | Mar 14, 2024 |
| BMPER | 1 | Mar 28, 2022 |
| BNC2 | 1 | Mar 14, 2024 |
| BRCA1 | 1 | Mar 28, 2022 |
| BTBD9 | 1 | Mar 14, 2024 |
| CACNA2D4 | 2 | Mar 14, 2024 |
| CADPS2 | 2 | Mar 14, 2024 |
| CAMTA1 | 1 | Mar 28, 2022 |
| CARMIL1 | 1 | Mar 28, 2022 |
| CASK | 1 | Mar 14, 2024 |
| CBS | 1 | Mar 28, 2022 |
| CDH13 | 1 | Mar 28, 2022 |
| CDH18 | 1 | Mar 28, 2022 |
| CDH8 | 1 | Mar 28, 2022 |
| CDKAL1 | 1 | Mar 28, 2022 |
| CEMIP | 1 | Mar 14, 2024 |
| CENPP | 1 | Mar 28, 2022 |
| CEP128 | 1 | Mar 28, 2022 |
| CERKL | 1 | Mar 14, 2024 |
| CFTR | 1 | Mar 28, 2022 |
| CGNL1 | 1 | Mar 28, 2022 |
| CHL1 | 3 | Mar 14, 2024 |
| CHRNA7 | 1 | Mar 14, 2024 |
| CNTN4 | 11 | Mar 14, 2024 |
| CNTN6 | 3 | Mar 14, 2024 |
| CNTNAP2 | 7 | Mar 14, 2024 |
| CNTNAP4 | 1 | Mar 14, 2024 |
| CNTNAP5 | 1 | Mar 14, 2024 |
| COL11A1 | 2 | Mar 28, 2022 |
| COP1 | 1 | Mar 14, 2024 |
| CPED1 | 1 | Mar 14, 2024 |
| CRB1 | 1 | Mar 28, 2022 |
| CRPPA | 1 | Mar 14, 2024 |
| CSMD3 | 3 | Mar 14, 2024 |
| CTNND2 | 2 | Mar 14, 2024 |
| CUX1 | 1 | Mar 28, 2022 |
| DAB1 | 2 | Mar 28, 2022 |
| DCC | 1 | Mar 28, 2022 |
| DEAF1 | 1 | Mar 14, 2024 |
| DIAPH2 | 1 | Mar 14, 2024 |
| DLG2 | 1 | Mar 14, 2024 |
| DMD | 16 | Mar 14, 2024 |
| DOCK1 | 2 | Mar 28, 2022 |
| DOCK3 | 1 | Mar 28, 2022 |
| DOCK8 | 2 | Mar 28, 2022 |
| DPP10 | 1 | Mar 14, 2024 |
| DPYD | 1 | Mar 28, 2022 |
| DYM | 2 | Mar 28, 2022 |
| EFTUD2 | 1 | Mar 28, 2022 |
| EHBP1 | 1 | Mar 28, 2022 |
| EHMT1 | 1 | Mar 14, 2024 |
| ELAVL4 | 1 | Mar 14, 2024 |
| ELP1 | 1 | Mar 14, 2024 |
| ELP4 | 3 | Mar 14, 2024 |
| EP300 | 1 | Mar 28, 2022 |
| EPB41L5 | 1 | Mar 28, 2022 |
| EPHA6 | 1 | Mar 28, 2022 |
| EXOC4 | 2 | Mar 14, 2024 |
| EXOC6B | 3 | Mar 14, 2024 |
| EXT2 | 1 | Mar 14, 2024 |
| EYS | 5 | Mar 14, 2024 |
| FANCC | 1 | Mar 28, 2022 |
| FANCD2 | 1 | Mar 28, 2022 |
| FBXL4 | 1 | Mar 28, 2022 |
| FGF12 | 1 | Mar 14, 2024 |
| FMN2 | 1 | Mar 14, 2024 |
| FOXP1 | 3 | Mar 14, 2024 |
| FOXP2 | 1 | Mar 28, 2022 |
| FPGT-TNNI3K | 2 | Mar 14, 2024 |
| FRAS1 | 1 | Mar 14, 2024 |
| FRMPD4 | 1 | Mar 14, 2024 |
| FRY | 1 | Mar 28, 2022 |
| FTO | 1 | Mar 28, 2022 |
| GALC | 2 | Mar 14, 2024 |
| GALNTL6 | 2 | Mar 14, 2024 |
| GFRA1 | 1 | Mar 14, 2024 |
| GHR | 1 | Mar 28, 2022 |
| GLB1 | 1 | Mar 28, 2022 |
| GLDC | 1 | Mar 28, 2022 |
| GLI2 | 1 | Mar 14, 2024 |
| GLI3 | 1 | Mar 14, 2024 |
| GLIS3 | 1 | Mar 14, 2024 |
| GNAO1 | 1 | Mar 14, 2024 |
| GNPTAB | 1 | Mar 14, 2024 |
| GPC3 | 1 | Mar 14, 2024 |
| GPC5 | 2 | Mar 14, 2024 |
| GPHN | 4 | Mar 14, 2024 |
| GRID2 | 1 | Mar 14, 2024 |
| GRIK1 | 2 | Mar 14, 2024 |
| GRIN2A | 1 | Mar 28, 2022 |
| GTDC1 | 1 | Mar 14, 2024 |
| HDAC9 | 1 | Mar 28, 2022 |
| HYCC1 | 1 | Mar 28, 2022 |
| IFT140 | 1 | Mar 28, 2022 |
| IL1RAPL1 | 1 | Mar 14, 2024 |
| IMPG1 | 1 | Mar 14, 2024 |
| ITGBL1 | 2 | Mar 28, 2022 |
| ITPR2 | 1 | Mar 28, 2022 |
| JARID2 | 2 | Mar 14, 2024 |
| KANK1 | 2 | Mar 28, 2022 |
| LARGE1 | 3 | Mar 28, 2022 |
| LPP | 1 | Mar 14, 2024 |
| LRBA | 2 | Mar 28, 2022 |
| LRRC4C | 1 | Mar 28, 2022 |
| LYRM4 | 1 | Mar 14, 2024 |
| MACROD2 | 1 | Mar 14, 2024 |
| MAML3 | 1 | Mar 28, 2022 |
| MAMLD1 | 1 | Mar 14, 2024 |
| MBD5 | 4 | Mar 14, 2024 |
| MBP | 1 | Mar 28, 2022 |
| MCCC1 | 1 | Mar 28, 2022 |
| ME1 | 1 | Mar 28, 2022 |
| MECP2 | 1 | Mar 14, 2024 |
| MED12 | 1 | Mar 28, 2022 |
| MED13L | 3 | Mar 14, 2024 |
| METTL15 | 3 | Mar 14, 2024 |
| MID1 | 1 | Mar 28, 2022 |
| MITF | 1 | Mar 14, 2024 |
| MLLT3 | 2 | Mar 14, 2024 |
| MSI2 | 1 | Mar 28, 2022 |
| MYH11 | 1 | Mar 14, 2024 |
| MYT1L | 2 | Mar 14, 2024 |
| NBEA | 1 | Mar 14, 2024 |
| NCKAP5 | 4 | Mar 28, 2022 |
| NEGR1 | 1 | Mar 14, 2024 |
| NELL1 | 1 | Mar 28, 2022 |
| NFASC | 1 | Mar 14, 2024 |
| NIPBL | 1 | Mar 28, 2022 |
| NLGN4X | 1 | Mar 14, 2024 |
| NPRL3 | 1 | Apr 11, 2024 |
| NRXN1 | 9 | Mar 14, 2024 |
| NSD1 | 1 | Mar 14, 2024 |
| NTRK2 | 1 | Mar 28, 2022 |
| OCRL | 1 | Mar 14, 2024 |
| OPHN1 | 3 | Mar 14, 2024 |
| OTOGL | 2 | Mar 28, 2022 |
| PAK2 | 1 | Mar 14, 2024 |
| PAK3 | 1 | Mar 28, 2022 |
| PCCA | 1 | Mar 14, 2024 |
| PCNT | 1 | Mar 14, 2024 |
| PDE4D | 1 | Mar 14, 2024 |
| PDE7B | 1 | Mar 28, 2022 |
| PHEX | 1 | Mar 14, 2024 |
| PIBF1 | 1 | Mar 14, 2024 |
| PIGN | 1 | Mar 28, 2022 |
| PIK3C2G | 1 | Mar 28, 2022 |
| PKD2 | 1 | Mar 14, 2024 |
| PKHD1 | 1 | Mar 28, 2022 |
| PLCB4 | 1 | Mar 14, 2024 |
| PLCE1 | 1 | Mar 14, 2024 |
| PMM2 | 1 | Mar 28, 2022 |
| POC1B | 2 | Mar 28, 2022 |
| PPP3CA | 1 | Mar 14, 2024 |
| PRICKLE1 | 1 | Mar 14, 2024 |
| PRKG1 | 1 | Mar 28, 2022 |
| PTPRD | 1 | Mar 14, 2024 |
| PTPRT | 1 | Mar 28, 2022 |
| RAD51B | 1 | Mar 28, 2022 |
| RAPGEF6 | 1 | Mar 28, 2022 |
| RB1 | 1 | Mar 14, 2024 |
| RBFOX1 | 7 | Mar 14, 2024 |
| RBM20 | 1 | Mar 14, 2024 |
| RERE | 1 | Mar 28, 2022 |
| ROBO2 | 1 | Mar 14, 2024 |
| ROR2 | 1 | Mar 28, 2022 |
| RPGRIP1L | 1 | Mar 28, 2022 |
| RTTN | 1 | Mar 28, 2022 |
| RUNX2 | 1 | Mar 14, 2024 |
| SATB2 | 1 | Mar 28, 2022 |
| SCN2A | 1 | Mar 28, 2022 |
| SDK1 | 1 | Mar 28, 2022 |
| SETBP1 | 1 | Mar 14, 2024 |
| SHANK2 | 1 | Mar 14, 2024 |
| SHROOM4 | 1 | Mar 14, 2024 |
| SIL1 | 1 | Mar 28, 2022 |
| SLC22A23 | 1 | Mar 28, 2022 |
| SLC2A9 | 1 | Mar 14, 2024 |
| SLC3A1 | 1 | Mar 14, 2024 |
| SMAP1 | 1 | Mar 28, 2022 |
| SMYD3 | 1 | Mar 28, 2022 |
| SND1 | 1 | Mar 14, 2024 |
| SOX5 | 2 | Mar 14, 2024 |
| SOX6 | 1 | Mar 14, 2024 |
| SPATA13 | 1 | Mar 14, 2024 |
| ST6GALNAC3 | 1 | Mar 28, 2022 |
| STK3 | 1 | Mar 28, 2022 |
| SUGCT | 5 | Mar 14, 2024 |
| SUMF1 | 1 | Mar 28, 2022 |
| SYN3 | 2 | Mar 14, 2024 |
| SYNE2 | 1 | Mar 14, 2024 |
| TBCD | 1 | Mar 14, 2024 |
| TCF12 | 1 | Mar 28, 2022 |
| TCF4 | 3 | Mar 14, 2024 |
| THSD7A | 1 | Mar 28, 2022 |
| TMEM260 | 1 | Mar 14, 2024 |
| TMEM38B | 1 | Mar 28, 2022 |
| TMLHE | 1 | Mar 28, 2022 |
| TNNI3K | 1 | Mar 14, 2024 |
| TPK1 | 1 | Mar 28, 2022 |
| TRAPPC9 | 2 | Mar 28, 2022 |
| TRIO | 1 | Mar 14, 2024 |
| TTC28 | 1 | Mar 28, 2022 |
| USH2A | 2 | Mar 28, 2022 |
| USP53 | 1 | Mar 14, 2024 |
| VEPH1 | 1 | Mar 14, 2024 |
| VMP1 | 1 | Mar 28, 2022 |
| VPS13A | 1 | Mar 28, 2022 |
| VPS13B | 1 | Mar 28, 2022 |
| VWA3B | 1 | Mar 28, 2022 |
| WRN | 1 | Mar 28, 2022 |
| WWOX | 1 | Mar 28, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| not specified | 2595 | Apr 11, 2024 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 15q11q13 microduplication syndrome | 1 test |
| 46,XY sex reversal 1 | 1 test |
| 4p partial monosomy syndrome | 1 test |
| 5p partial monosomy syndrome | 1 test |
| Acute lymphoid leukemia | 1 test |
| Acute myeloid leukemia | 1 test |
| Advanced maternal age gravida | 1 test |
| Ambiguous genitalia | 1 test |
| Angelman syndrome | 1 test |
| Anomaly of sex chromosome | 2 tests |
| Autism spectrum disorder | 2 tests |
| Autosomal chromosomal disorder | 5 tests |
| Chromosome 13q trisomy | 4 tests |
| Chromosome 3, trisomy 3p | 4 tests |
| Chromosome 5, trisomy 5p | 4 tests |
| Complete trisomy 13 syndrome | 7 tests |
| Complete trisomy 18 | 3 tests |
| Complete trisomy 20 syndrome | 4 tests |
| Complete trisomy 21 syndrome | 7 tests |
| Congenital chromosomal disease | 5 tests |
| Delayed puberty | 1 test |
| Developmental delay | 3 tests |
| DiGeorge syndrome | 1 test |
| Double Y syndrome | 1 test |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 test |
| Infertility disorder | 1 test |
| Intellectual disability | 2 tests |
| Klinefelter syndrome | 3 tests |
| Leri-Weill dyschondrosteosis | 1 test |
| Lymphoid leukemia | 1 test |
| Lymphoma | 1 test |
| Miller Dieker syndrome | 1 test |
| Miscarriage | 3 tests |
| Multiple congenital anomalies | 4 tests |
| Phelan-McDermid syndrome | 1 test |
| Prader-Willi syndrome | 1 test |
| Sex-linked hereditary disorder | 4 tests |
| Smith-Magenis syndrome | 1 test |
| Solid tumor | 1 test |
| Triploidy | 2 tests |
| Trisomy | 1 test |
| Trisomy 18 | 4 tests |
| Trisomy 8 | 4 tests |
| Trisomy X syndrome | 3 tests |
| Turner syndrome | 4 tests |
| Williams syndrome | 1 test |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |