An intronic GAA expansion in the FGF14 gene has recently been identified in several individuals with previously unexplained late-onset ataxia (PMID: 36516086, 36493768).
FGF14 Repeat Expansion Testing for SCA27B Now Available!
An intronic GAA expansion in the FGF14 gene has recently been identified in several individuals with previously unexplained late-onset ataxia (PMID: 36516086, 36493768).
RFC1 Repeat Expansion Testing for CANVAS/Spectrum Disorders Now Available!
Update August 8, 2022
FMR1 Premutation Repeat Expansion Analysis Added to Two Panels at no additional cost!
We are pleased to announce the addition of FMR1 premutation repeat expansion analysis to our Ataxia Repeat Expansion Panel and our Premature Ovarian Failure Panel, making these tests more comprehensive!
Dyslipidemia and Hypercholesterolemia Panels Now Available!
We are pleased to announce we have added new panels for dyslipidemias and familial hypercholesterolemia to our testing menu! Dyslipidemias are a clinically and genetically heterogenous group of disorders associated with abnormal levels of lipids and lipoproteins, including increased or decreased
New panels for thyroid diseases now available!
We are excited to announce an expansion to our endocrinology testing menu! In collaboration with Dr. Samuel Refetoff at the University of Chicago, a long-standing expert on thyroid diseases, we have developed new panel testing options for thyroid diseases including congenital hypothyroidism, hypoparathyroidism, hyperparathyroidism, hypophosphatemic rickets, and hereditary thyroid cancer.
UCGSL adds additional state Clinical Laboratory Permits
UCGSL has recently obtained an out-of-state Clinical Laboratory license in Rhode Island! In addition, we hold state Clinical Laboratory permits for Maryland and Pennsylvania, and have applications for additional states pending.
Happy Holidays from UCGSL!
In observance of the holidays, we will be closed on Monday December 26th, and Monday January 2nd. We will be unable to receive or process specimens on those days, FedEx and UPS will also not be in operation.
A new look for the UGCS website!
The team at UCGS labs has been working over the past year to update our website with a fresh new look and improved functionality!
Coding Corner Guide to ICD-10 Implementation
ICD-10 Implementation has arrived! Our health care system moved to the International Classification for Disease, 10th Revision – ICD-10 on October 1, 2015.
UCGS Introduces New Panel Options for Disorders of Sex Development
The University of Chicago Genetic Services are pleased to announce we are now offering new testing options for disorders of sex development (DSD)!
UCGS Introduces New Panel Options and Reduced Prices for Congenital Hyperinsulinism Testing
The University of Chicago Genetic Services are pleased to announce we are now offering reduced prices and additional testing options for congenital hyperinsulinism!
UCGS Now Offering Reduced 8-10 Week Turnaround Time for Exome Sequencing, And Enhanced Coverage of Medically Relevant Genes
UCGS is pleased to announce that our Exome Sequencing testing options now have a reduced turnaround time of 8-10 weeks.
Genetic Testing for Monogenic Forms of Diabetes Improves Diagnosis and Treatment
Our Associate Director Dr. Del Gaudio will be moderating and presenting at a concurrent session at the ACMG Annual Meeting.
Upcoming ACMG Conference
We look forward to seeing you this month at the upcoming ACMG Annual Clinical Genetics Meeting in Salt Lake City, Utah.
Come visit our booth at Salt Palace Convention Center, March 25-27, Booth 718.
Clinical Exome Sequencing for Genetic Identification of Ataxia
This poster (#556) will be presented at the ACMG Annual Meeting by Miao Sun, molecular fellow, Friday March 27: 10:30am-noon. Stop by and learn more.
MS-MLPA Analysis Reveals a Novel Genetic Mechanism Causing 6q24-Transient Neonatal Diabetes Mellitus
This poster (#343) will be presented at the ACMG Annual Meeting by Dr. Alkorta-Aranburu, molecular fellow, Thursday March 26: 10:30am-noon. Stop by and learn more.
UCGS Announces Reduced Turnaround Times!
The University of Chicago Genetic Services is a leader in providing clinical genetic testing, and we are pleased to announce we are now offering reduced turnaround times for all our testing options.
We now offer the following turnaround times:
Calling all bioinformatics programmers! We're hiring!
The molecular diagnostic laboratory in the Department of Human Genetics at the University of Chicago is focused on the development and implementation of molecular genetic tests for rare orphan genetic disorders. We are seeking a bioinformatics programmer to consult w
UCGS Introduces Expanded Next Generation Sequencing Panels
The University of Chicago Genetic Services is excited to announce expanded Next-Generation Sequencing panel testing options for a number of rare disorders.
We are now offering additional genes for a number of our panels, including: