ARUP Laboratories, Cytogenetics and Genomic Microarray (ARUP Laboratories)
General information
ARUP Laboratories, Cytogenetics and Genomic Microarray
ARUP Laboratories
500 Chipeta Way
Salt Lake City
Utah
United States - 84108
http://www.aruplab.com/genetics
Organization ID: 319864
ARUP Laboratories
500 Chipeta Way
Salt Lake City
Utah
United States - 84108
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 - Timothy Tidwell, Informatics staff
Phone: 801-583-2787
Email: timothy.tidwell@aruplab.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1915
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC6 | 4 | Feb 28, 2017 |
| ABCC9 | 1 | Feb 28, 2017 |
| ACTN1 | 1 | Feb 28, 2017 |
| ADAMTS17 | 1 | Feb 28, 2017 |
| ADAMTSL3 | 3 | Feb 28, 2017 |
| ADGRB3 | 1 | Feb 28, 2017 |
| ADGRV1 | 1 | Feb 28, 2017 |
| AGMO | 1 | Feb 28, 2017 |
| AHI1 | 2 | Feb 28, 2017 |
| ANK2 | 1 | Feb 28, 2017 |
| ANKRD11 | 1 | Feb 28, 2017 |
| ARHGAP32 | 1 | Feb 28, 2017 |
| ARHGEF28 | 1 | Feb 28, 2017 |
| ASPH | 1 | Feb 28, 2017 |
| ASTN2 | 8 | Feb 28, 2017 |
| ATP8B1 | 1 | Feb 28, 2017 |
| ATXN1 | 1 | Feb 28, 2017 |
| AUTS2 | 2 | Feb 28, 2017 |
| BANK1 | 1 | Feb 28, 2017 |
| BBS9 | 2 | Feb 28, 2017 |
| BCAS3 | 1 | Feb 28, 2017 |
| CACNA2D3 | 1 | Feb 28, 2017 |
| CACNA2D4 | 1 | Feb 28, 2017 |
| CACNB4 | 1 | Feb 28, 2017 |
| CALN1 | 1 | Jun 21, 2014 |
| CARMIL1 | 1 | Feb 28, 2017 |
| CASK | 1 | Jun 21, 2014 |
| CBS | 1 | Feb 28, 2017 |
| CDH13 | 1 | Feb 28, 2017 |
| CGNL1 | 1 | Feb 28, 2017 |
| CNTN4 | 3 | Feb 28, 2017 |
| CNTN5 | 1 | Feb 28, 2017 |
| CNTNAP2 | 4 | Feb 28, 2017 |
| CPED1 | 1 | Feb 28, 2017 |
| CSMD1 | 1 | Feb 28, 2017 |
| CSMD3 | 2 | Feb 28, 2017 |
| CTNND2 | 2 | Feb 28, 2017 |
| CUX1 | 1 | Feb 28, 2017 |
| DAB1 | 1 | Feb 28, 2017 |
| DCC | 3 | Feb 28, 2017 |
| DMD | 5 | Feb 28, 2017 |
| DOCK1 | 1 | Feb 28, 2017 |
| DOCK3 | 1 | Feb 28, 2017 |
| DOCK8 | 1 | Jun 21, 2014 |
| DPYD | 1 | Feb 28, 2017 |
| DYM | 1 | Feb 28, 2017 |
| EPHA6 | 1 | Feb 28, 2017 |
| ERC1 | 1 | Feb 28, 2017 |
| EXOC4 | 1 | Feb 28, 2017 |
| EXOC6B | 1 | Feb 28, 2017 |
| EYS | 1 | Feb 28, 2017 |
| FANCD2 | 1 | Feb 28, 2017 |
| FARS2 | 1 | Feb 28, 2017 |
| FBXL4 | 1 | Feb 28, 2017 |
| FER1L6 | 1 | Feb 28, 2017 |
| FGF14 | 1 | Feb 28, 2017 |
| FGGY | 1 | Feb 28, 2017 |
| FHIT | 1 | Feb 28, 2017 |
| FOXP1 | 1 | Feb 28, 2017 |
| FSTL4 | 1 | Feb 28, 2017 |
| FSTL5 | 1 | Feb 28, 2017 |
| GALC | 1 | Feb 28, 2017 |
| GATA4 | 1 | Feb 28, 2017 |
| GHR | 1 | Feb 28, 2017 |
| GLB1 | 1 | Feb 28, 2017 |
| GLDC | 1 | Feb 28, 2017 |
| GPC5 | 2 | Feb 28, 2017 |
| GPHN | 1 | Feb 28, 2017 |
| GRID1 | 1 | Feb 28, 2017 |
| GULP1 | 1 | Feb 28, 2017 |
| HDAC9 | 1 | Feb 28, 2017 |
| HLCS | 1 | Feb 28, 2017 |
| IFT80 | 1 | Feb 28, 2017 |
| ITGBL1 | 1 | Feb 28, 2017 |
| KANK1 | 3 | Feb 28, 2017 |
| LARGE1 | 4 | Feb 28, 2017 |
| LRBA | 2 | Feb 28, 2017 |
| LRP1B | 1 | Feb 28, 2017 |
| LRRC4C | 1 | Feb 28, 2017 |
| MBD5 | 4 | Feb 28, 2017 |
| MBP | 1 | Feb 28, 2017 |
| MCC | 1 | Feb 28, 2017 |
| MCCC1 | 1 | Feb 28, 2017 |
| ME1 | 1 | Feb 28, 2017 |
| MED12 | 1 | Feb 28, 2017 |
| MICU1 | 1 | Feb 28, 2017 |
| MLLT3 | 1 | Feb 28, 2017 |
| MSI2 | 1 | Feb 28, 2017 |
| MSRA | 1 | Feb 28, 2017 |
| NCKAP5 | 5 | Feb 28, 2017 |
| NEK1 | 1 | Feb 28, 2017 |
| NELL1 | 2 | Feb 28, 2017 |
| NFIA | 1 | Feb 28, 2017 |
| NPC1 | 1 | Feb 28, 2017 |
| NRG3 | 1 | Feb 28, 2017 |
| NRXN1 | 4 | Feb 28, 2017 |
| OPHN1 | 1 | Feb 28, 2017 |
| OTOGL | 1 | Feb 28, 2017 |
| PACRG | 1 | Feb 28, 2017 |
| PDE7B | 1 | Feb 28, 2017 |
| PIK3C2G | 1 | Feb 28, 2017 |
| PRKN | 1 | Feb 28, 2017 |
| PTGER3 | 1 | Feb 28, 2017 |
| PTPN13 | 1 | Feb 28, 2017 |
| PTPRT | 1 | Feb 28, 2017 |
| RBFOX1 | 9 | Feb 28, 2017 |
| ROCK1 | 1 | Feb 28, 2017 |
| RPGRIP1L | 1 | Feb 28, 2017 |
| SATB2 | 1 | Feb 28, 2017 |
| SCN2A | 1 | Feb 28, 2017 |
| SDK1 | 1 | Feb 28, 2017 |
| SIL1 | 1 | Feb 28, 2017 |
| SMAP1 | 1 | Feb 28, 2017 |
| SMYD3 | 1 | Feb 28, 2017 |
| SNTG2 | 1 | Feb 28, 2017 |
| SPECC1 | 1 | Feb 28, 2017 |
| ST6GALNAC3 | 1 | Feb 28, 2017 |
| STK3 | 3 | Feb 28, 2017 |
| STS | 1 | Feb 28, 2017 |
| STX8 | 1 | Feb 28, 2017 |
| SUGCT | 3 | Feb 28, 2017 |
| SYN3 | 1 | Feb 28, 2017 |
| TACR1 | 1 | Feb 28, 2017 |
| TG | 1 | Feb 28, 2017 |
| THSD7A | 1 | Feb 28, 2017 |
| THSD7B | 3 | Feb 28, 2017 |
| TPK1 | 1 | Feb 28, 2017 |
| TRAP1 | 1 | Feb 28, 2017 |
| TRAPPC9 | 1 | Feb 28, 2017 |
| TRHDE | 1 | Feb 28, 2017 |
| TUSC3 | 1 | Feb 28, 2017 |
| ULK4 | 1 | Feb 28, 2017 |
| USH2A | 1 | Feb 28, 2017 |
| USP34 | 1 | Feb 28, 2017 |
| VDR | 1 | Feb 28, 2017 |
| VPS13B | 2 | Feb 28, 2017 |
| WDPCP | 1 | Feb 28, 2017 |
| WRN | 2 | Feb 28, 2017 |
| ZNF365 | 1 | Feb 28, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cat eye syndrome | 1 | Mar 22, 2019 |
| Mental retardation, autosomal dominant 39 | 1 | Mar 21, 2019 |
| See cases | 1912 | Apr 12, 2019 |
| not specified | 1 | Mar 21, 2019 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 22q13.3 deletion syndrome | 1 test |
| 46,XY sex reversal, type 1 | 1 test |
| 4p partial monosomy syndrome | 1 test |
| 5p partial monosomy syndrome | 1 test |
| Advanced maternal age gravida | 1 test |
| Angelman syndrome | 1 test |
| Autism spectrum disorder | 5 tests |
| Autosomal chromosomal disorder | 4 tests |
| Chromosome 13q trisomy | 3 tests |
| Chromosome 15q11-q13 duplication syndrome | 1 test |
| Chromosome 22q11.2 microduplication syndrome | 1 test |
| Chromosome 3, trisomy 3p | 3 tests |
| Chromosome 5, trisomy 5p | 3 tests |
| Complete trisomy 13 syndrome | 4 tests |
| Complete trisomy 18 syndrome | 4 tests |
| Complete trisomy 20 syndrome | 3 tests |
| Complete trisomy 21 syndrome | 4 tests |
| Congenital chromosomal disease | 6 tests |
| Developmental delay | 5 tests |
| DiGeorge Syndrome | 1 test |
| Double Y syndrome | 1 test |
| Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | 1 test |
| Infertility | 1 test |
| Intellectual disability | 5 tests |
| Klinefelter syndrome | 1 test |
| Leri-Weill dyschondrosteosis | 1 test |
| Miller Dieker syndrome | 1 test |
| Multiple congenital anomalies | 5 tests |
| Prader-Willi syndrome | 1 test |
| Pregnancy loss, recurrent, susceptibility to, 1 | 1 test |
| Sex-linked hereditary disorder | 3 tests |
| Shprintzen syndrome | 1 test |
| Smith-Magenis syndrome | 1 test |
| Spontaneous abortion | 1 test |
| Trisomy | 1 test |
| Trisomy 8 | 3 tests |
| Trisomy X syndrome | 1 test |
| Turner syndrome | 1 test |
| Williams syndrome | 1 test |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |