Cytogenetics Laboratory - Submitter

Cytogenetics Laboratory (University of Washington)

General information

Cytogenetics Laboratory
University of Washington
1959 NE Pacific Street
Room NW-125
Seattle
Washington
United States - 98195-6100
https://dlmp.uw.edu/patient-care/cytogenetics
Organization ID: 505311

Personnel

Whitney Neufeld-Kaiser, Genetic Counselor
Phone: 206-598-8684
Email: [email protected]

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

UW Cytogenetics and Genomics Laboratory Policy on CNV Interpretation (5/6/2015)

Summary of submissions to ClinVar

Total submissions: 67

Gene

Gene	Submissions	Last Updated
CNTN4	2	Nov 9, 2015
MADD	1	Nov 9, 2015
NR2F1	1	Jun 16, 2015
NRXN1	1	Nov 9, 2015
PDZRN3	1	Jun 16, 2015
PRKN	2	Jul 9, 2018
RBFOX1	1	Jun 16, 2015

Condition

Name	Submissions	Last Updated
See cases	67	Apr 15, 2019

Testing in GTR

Enter text to narrow down the list

Disease name	Number of tests
46,XX testicular disorder of sex development	1 test
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis	1 test
4p partial monosomy syndrome	1 test
5p partial monosomy syndrome	1 test
Acute lymphoid leukemia	3 tests
Acute myeloid leukemia	1 test
Advanced maternal age gravida	2 tests
Angelman syndrome	1 test
Anomaly of sex chromosome	2 tests
Autosomal chromosomal disorder	4 tests
B-cell chronic lymphocytic leukemia	1 test
Breast neoplasm	1 test
Chromosome 1p36 deletion syndrome	1 test
Chromosome 22q11.2 microduplication syndrome	1 test
Complete trisomy 13 syndrome	3 tests
Complete trisomy 18	1 test
Congenital chromosomal disease	4 tests
Double Y syndrome	3 tests
Down syndrome	3 tests
Ewing sarcoma	1 test
Glioblastoma	1 test
Hypogonadotropic hypogonadism 1 with or without anosmia	1 test
Infertility disorder	1 test
Klinefelter syndrome	3 tests
Known OR suspected fetal abnormality affecting management of mother	2 tests
Langer mesomelic dysplasia syndrome	1 test
Leri-Weill dyschondrosteosis	1 test
Lung carcinoma	1 test
Maternal care for suspected chromosomal abnormality in fetus	1 test
Miller Dieker syndrome	1 test
Miscarriage	2 tests
Multiple myeloma	1 test
Myelodysplastic syndrome	1 test
Myeloproliferative disorder	1 test
Myeloproliferative disorder, chronic, with eosinophilia	1 test
Non-Hodgkin lymphoma	1 test
Prader-Willi syndrome	1 test
Pregnancy loss, recurrent, susceptibility to, 1	1 test
SHOX-related short stature	1 test
Smith-Magenis syndrome	1 test
Triploidy	3 tests
Trisomy 18	2 tests
Trisomy 22	1 test
Trisomy X syndrome	3 tests
Turner syndrome	3 tests
Velocardiofacial syndrome	1 test
Williams syndrome	1 test
X-linked ichthyosis with steryl-sulfatase deficiency	1 test

ClinVar

Relating variation to medicine