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 |
---|---|---|
ABCC9 | 1 | Mar 28, 2022 |
ACTN1 | 1 | Mar 28, 2022 |
ADAMTS17 | 1 | Mar 28, 2022 |
ADGRB3 | 1 | Mar 28, 2022 |
AFG2A | 2 | Mar 28, 2022 |
AGL | 1 | Mar 28, 2022 |
AHI1 | 2 | Mar 28, 2022 |
ALDH1A2 | 1 | Mar 28, 2022 |
ANK2 | 1 | Mar 28, 2022 |
ANKRD11 | 3 | Mar 28, 2022 |
ARHGEF28 | 1 | Mar 28, 2022 |
ARID2 | 1 | Mar 28, 2022 |
ASPH | 1 | Mar 28, 2022 |
ASTN2 | 9 | Mar 28, 2022 |
ATXN1 | 1 | Mar 28, 2022 |
AUTS2 | 4 | Mar 28, 2022 |
BBS9 | 1 | Mar 28, 2022 |
BMPER | 1 | Mar 28, 2022 |
BRCA1 | 1 | Mar 28, 2022 |
CACNA2D4 | 1 | Mar 28, 2022 |
CADPS2 | 1 | Mar 28, 2022 |
CAMTA1 | 1 | Mar 28, 2022 |
CARMIL1 | 1 | Mar 28, 2022 |
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 |
CENPP | 1 | Mar 28, 2022 |
CEP128 | 1 | Mar 28, 2022 |
CFTR | 1 | Mar 28, 2022 |
CGNL1 | 1 | Mar 28, 2022 |
CHL1 | 1 | Mar 28, 2022 |
CNTN4 | 7 | Mar 28, 2022 |
CNTNAP2 | 3 | Mar 28, 2022 |
COL11A1 | 2 | Mar 28, 2022 |
CRB1 | 1 | Mar 28, 2022 |
CSMD3 | 2 | Mar 28, 2022 |
CTNND2 | 1 | Mar 28, 2022 |
CUX1 | 1 | Mar 28, 2022 |
DAB1 | 2 | Mar 28, 2022 |
DCC | 1 | Mar 28, 2022 |
DMD | 11 | Mar 28, 2022 |
DOCK1 | 2 | Mar 28, 2022 |
DOCK3 | 1 | Mar 28, 2022 |
DOCK8 | 2 | Mar 28, 2022 |
DPYD | 1 | Mar 28, 2022 |
DYM | 2 | Mar 28, 2022 |
EFTUD2 | 1 | Mar 28, 2022 |
EHBP1 | 1 | Mar 28, 2022 |
ELAVL4 | 1 | Mar 14, 2024 |
EP300 | 1 | Mar 28, 2022 |
EPB41L5 | 1 | Mar 28, 2022 |
EPHA6 | 1 | Mar 28, 2022 |
EXOC4 | 1 | Mar 28, 2022 |
EXOC6B | 1 | Mar 28, 2022 |
EYS | 4 | Mar 28, 2022 |
FANCC | 1 | Mar 28, 2022 |
FANCD2 | 1 | Mar 28, 2022 |
FBXL4 | 1 | Mar 28, 2022 |
FOXP1 | 2 | Mar 28, 2022 |
FOXP2 | 1 | Mar 28, 2022 |
FPGT-TNNI3K | 1 | Mar 28, 2022 |
FRY | 1 | Mar 28, 2022 |
FTO | 1 | Mar 28, 2022 |
GALC | 1 | Mar 28, 2022 |
GHR | 1 | Mar 28, 2022 |
GLB1 | 1 | Mar 28, 2022 |
GLDC | 1 | Mar 28, 2022 |
GPC5 | 1 | Mar 28, 2022 |
GPHN | 2 | Mar 28, 2022 |
GRIK1 | 1 | Mar 28, 2022 |
GRIN2A | 1 | Mar 28, 2022 |
HDAC9 | 1 | Mar 28, 2022 |
HYCC1 | 1 | Mar 28, 2022 |
IFT140 | 1 | Mar 28, 2022 |
ITGBL1 | 2 | Mar 28, 2022 |
ITPR2 | 1 | Mar 28, 2022 |
KANK1 | 2 | Mar 28, 2022 |
LARGE1 | 3 | Mar 28, 2022 |
LRBA | 2 | Mar 28, 2022 |
LRRC4C | 1 | Mar 28, 2022 |
MAML3 | 1 | Mar 28, 2022 |
MBD5 | 3 | Mar 28, 2022 |
MBP | 1 | Mar 28, 2022 |
MCCC1 | 1 | Mar 28, 2022 |
ME1 | 1 | Mar 28, 2022 |
MED12 | 1 | Mar 28, 2022 |
MED13L | 2 | Mar 28, 2022 |
METTL15 | 1 | Mar 28, 2022 |
MID1 | 1 | Mar 28, 2022 |
MLLT3 | 1 | Mar 28, 2022 |
MSI2 | 1 | Mar 28, 2022 |
NCKAP5 | 4 | Mar 28, 2022 |
NELL1 | 1 | Mar 28, 2022 |
NIPBL | 1 | Mar 28, 2022 |
NRXN1 | 8 | Mar 28, 2022 |
NTRK2 | 1 | Mar 28, 2022 |
OPHN1 | 1 | Mar 28, 2022 |
OTOGL | 2 | Mar 28, 2022 |
PAK3 | 1 | Mar 28, 2022 |
PDE7B | 1 | Mar 28, 2022 |
PIGN | 1 | Mar 28, 2022 |
PIK3C2G | 1 | Mar 28, 2022 |
PKHD1 | 1 | Mar 28, 2022 |
PMM2 | 1 | Mar 28, 2022 |
POC1B | 2 | Mar 28, 2022 |
PRKG1 | 1 | Mar 28, 2022 |
PTPRT | 1 | Mar 28, 2022 |
RAD51B | 1 | Mar 28, 2022 |
RAPGEF6 | 1 | Mar 28, 2022 |
RBFOX1 | 6 | Mar 28, 2022 |
RERE | 1 | Mar 28, 2022 |
ROR2 | 1 | Mar 28, 2022 |
RPGRIP1L | 1 | Mar 28, 2022 |
RTTN | 1 | Mar 28, 2022 |
SATB2 | 1 | Mar 28, 2022 |
SCN2A | 1 | Mar 28, 2022 |
SDK1 | 1 | Mar 28, 2022 |
SIL1 | 1 | Mar 28, 2022 |
SLC22A23 | 1 | Mar 28, 2022 |
SMAP1 | 1 | Mar 28, 2022 |
SMYD3 | 1 | Mar 28, 2022 |
SOX5 | 1 | Mar 28, 2022 |
SPATA13 | 1 | Mar 14, 2024 |
ST6GALNAC3 | 1 | Mar 28, 2022 |
STK3 | 1 | Mar 28, 2022 |
SUGCT | 3 | Mar 28, 2022 |
SUMF1 | 1 | Mar 28, 2022 |
SYN3 | 1 | Mar 28, 2022 |
TCF12 | 1 | Mar 28, 2022 |
THSD7A | 1 | Mar 28, 2022 |
TMEM38B | 1 | Mar 28, 2022 |
TMLHE | 1 | Mar 28, 2022 |
TPK1 | 1 | Mar 28, 2022 |
TRAPPC9 | 2 | Mar 28, 2022 |
TTC28 | 1 | Mar 28, 2022 |
USH2A | 2 | Mar 28, 2022 |
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 | Mar 14, 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 |