Web32 righe · To determine if the variant (s) of interest are detectable by this assay, contact an ARUP genetic counselor at 800-242-2787. Use to confirm diagnosis of a skeletal … WebClient: ARUP Example Report Only 500 Chipeta Way Salt Lake City, UT 84108 UNITED STATES Physician: arup, arup Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal ... Skeletal Dysplasia Panel Specimen, Fetal 22-227-106171 8/15/2024 11:31:00 AM 8/15/2024 11:31:22 AM 8/15/2024 11:39:00 AM
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) AND not provided
WebSkeletal abnormalities (eg, early-onset arthritis, short stature, spondyloepiphyseal dysplasia upon radiographic evaluation, scoliosis, or kyphosis) Craniofacial features (eg, … WebExome Reanalysis (Originally Test at ARUP - No Specimen Required) Additional Technical Information; Exome : Factor V Leiden: 0030192: APC Resistance Profile with Reflex to Factor V Leiden: ... Skeletal Dysplasia: SKEL PANEL, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, ... bgc autogiroanmälan
Stickler Syndrome Panel, Sequencing Test Fact Sheet - ARUP …
Web69 righe · Skeletal dysplasias are a heterogeneous group of more than 400 disorders characterized by abnormal growth of cartilage or bone. Some skeletal dysplasias are detectable prenatally while others are not evident until after birth or in later childhood. WebBACKGROUND INFORMATION: Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication CHARACTERISTICS: Skeletal dysplasias (SD) are a … Web15 ago 2024 · Skeletal Dysplasia Panel Interp, Fetal Resultable N For questions regarding the Interface Map, please contact [email protected] . Download to Excel … bft tankstelle tankautomat