Specimen Required. 3 mL whole blood in EDTA (lavender top tube). Yellow top ( ACD) is acceptable. Ship ambient. Required: New York Clients-Informed ... Pathology & Laboratory Medicine HomeHelp 3 mL whole blood in EDTA (lavender top tube). Yellow top (ACD) is acceptable. Ship ambient. Required: New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing: Shox-DNA-Dx Test is available in Special Instructions. Specimen Type Temperature Time Special Container Whole Blood EDTA Ambient (preferred) 7 days Informed Consent for Genetic Testing: Shox-DNA-Dx Test Testing is complete. Report has been attached in MayoAccess. Test ID Test Order Name Order LOINC Value Result ID Test Result Name Result LOINC Value Mutation analysis by PCR, DHPLC and sequencing as needed Informed Consent for Genetic Testing: Shox-DNA-Dx Test in Special Instructions Portions ©2020 Mayo Foundation for Medical Education and Research.
... for testing residual thyroid function that eliminates antibody interference; SHOX -DNA-Dx®: Genetic assay that detects mutations in the short stature homeobox ... UPDATE: Important information about LabCorp's response to COVID-19 Read more >>> Over the past 40+ years, Esoterix's laboratories and scientific staff have consistently developed and launched important new products designed to help physicians diagnose, treat, and monitor their patients. Mass spectrometry (HPLC/MS-MS): Superior specificity and sensitivity for critical steroid assays Salivary cortisol and testosterone: Monitors hormone levels through convenient saliva samples GlycoMark®: An assay reflective of postmeal glucose spikes Comprehensive thyroglobulin: A unique approach for testing residual thyroid function that eliminates antibody interference SHOX-DNA-Dx®: Genetic assay that detects mutations in the short stature homeobox gene Fractionated 25-hydroxy vitamin D: Differentiates between circulating D2 and D3 NMR LipoProfile®: Expanded lipoprotein subfractionation testing Connectivity solutions: Web-based test ordering and result delivery Thrombophilia assessment: Complete thrombotic risk evaluation through a broad menu of hemostasis assays Abnormal APTT/PT evaluation: A targeted approach to identify bleeding and clotting disorders Bleeding diathesis diagnosis: Esoteric assays help detect abnormalities in various pathways to determine a patient’s hemorrhagic risk von Willebrand disease: A variety of assays including multimer analysis, collagen binding activity, and pathologist review Pediatric profiles (bleeding and clotting): Specialized test combinations with minimum volume requirements
Oct 19, 2005 ... Esoterix, a subsidiary of Laboratory Corporation of America Holdings (LabCorp) announced that it has expanded its exclusive rights for SHOX... Esoterix Expands Exclusive Testing Rights For SHOX Gene Testing Austin, TX - Esoterix, a subsidiary of Laboratory Corporation of America Holdings (LabCorp) announced that it has expanded its exclusive rights for SHOX diagnostic testing services to include the European Union. The test, SHOX-DNA-DX, provides physicians with the ability to diagnose the reason for lack of growth in some short-stature children who were previously classified as having idiopathic short stature. Discovered in 1997, SHOX is an acronym for the Short Stature Homeobox-containing gene, which is located on the short arm of the X and Y chromosomes. Deficiency of one copy of the SHOX gene is believed to be the cause of short stature in Turner syndrome. In addition, research has shown that SHOX gene defects are present in the majority of individuals with Leri-Weill syndrome and in some children previously classified as having idiopathic short stature. SHOX deficiency may manifest as growth retardation, in utero or during childhood, and may also be associated with other skeletal changes. These additional skeletal features are variable ranging from subtle changes to the more obvious shortening and bowing of the forearm and Madelung deformity (bayonet-like deformity of the wrist). SHOX deficiency affects approximately one in 1000 to 2000 children or approximately two to four in 100 children with short stature. The diagnosis of SHOX deficiency will allow the physician to understand the cause of short stature in the patient and will alert him to monitor possible skeletal abnormalities; furthermore, it will be of great value in genetic counseling and treatment considerations.
Mar 6, 2009 ... 33 and Yp11.32). Diagnostic testing: Molecular diagnostics for the SHOX gene is
carried out by Esoterix/Labcorp for North America and ...
... a commercial diagnostic test for homozygosity of multiple intragenic SNPs (
SHOX-DNA-Dx [Esoterix Endocrinology]). Deletions were characterized as
00115105, -, SHOX Lab Heidelberg, unpublished, -, -, -, Germany, white, -, 0, -, -,
ISS, short stature, idiopathic (ISS), 1, 1, Ralph Roeth. 00115106, -, Esoterix ...
Short stature is a multifactorial developmental disorder. Short stature homeobox (
SHOX)-related haploinsufficiency is a genetic disorder that manifests as short ...