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 | 2 | Jul 9, 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 | Jul 9, 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 |
Congenital chromosomal disease | 5 tests |
Delayed puberty | 1 test |
Developmental delay | 3 tests |
DiGeorge syndrome | 1 test |
Double Y syndrome | 1 test |
Down syndrome | 7 tests |
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 |
Recurrent spontaneous abortion | 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 |