Neuromuscular Disorders Panel
Institutional Price
$2000
CPT Code
TAT
Disorders
Genes
Cytogenomic SNP array (postnatal)
Institutional Price
$1500
microarray
CPT Code
TAT
Epilepsy Exome
Institutional Price
$4000
CPT Code
TAT
Disorders
Genes
46,XX Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Institutional Price
$2000
The 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis (46,XX DSD/CGD) Sequencing Panel includes 9 genes associated with disorders of sex development (DSD) or complete gonadal dysgenesis (CGD) in patients with a 46,XX karyotype. A range of phenotypes may be observed in patients with 46,XX DSD/CGD, from mullerian aplasia and hyperandrogenism or ovarian dysgenesis, to adrenal hyperplasia with overvirilization. There are syndromic forms of 46,XX DSDs, such as Peters-Plus syndrome and WAGR syndrome.
TAT
46,XY Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Institutional Price
$3000
The 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis (46,XY DSD/CGD) Sequencing Panel includes sequence analysis of 26 genes associated with disorders of sex development (DSD) or complete gonadal dysgenesis (CGD) in patients with a 46,XY karyotype. Individuals with 46,XY CGD (also known as 46,XY sex reversal) have a 46,XY karyotype in conjunction with normal female external genitalia, “streak” gonads, absent sperm production, and presence of a uterus and fallopian tubes.
CPT Code
TAT
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)!
Cornelia de Lange and Related Disorders Panel
Institutional Price
$3000
Cornelia de Lange syndrome is characterized by distinctive craniofacial features, developmental delays, variable congenital malformations, and growth retardation. Several conditions have considerable overlap with CdLS, including Coffin-Siris syndrome, Rubinstein Taybi syndrome, Robinow syndrome, and Roberts syndrome. The Cornelia de Lange PLUS Sequencing Panel offers sequencing of 21 genes associated with CdLS and related disorders.
Categories OLD
CPT Code
Featured
TAT
Disorders
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.
In addition, our exome sequencing tests now offer the next level in clinical exome sequencing and provides enhanceed coverage of the ~4600 genes with known association with human disease.
Please contact us to find out more about our Exome Sequencing testing options!
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. The concurrent session, "Mendelian Forms of Common Diseases Reveals Insights Into the Pathogenesis and Treatment for Complex Phenotypes" will be held on Friday March 27 from 1.15-3.15pm in Ballroom JHF in the Salt Lake Convention Center. Dr. Del Gaudio will be presenting her talk "Genetic Testing for Monogenic Forms of Diabetes Improves Diagnosis and Treatment" from 1.15-1.45pm. Stop by and learn more.
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.