Bloomberg Markets’ report on the Businessweek story January 04, 2016
Read MoreLaboratory Director Dr. Kellogg is currently the Director of Quality Programs and Associate Director of Chemistry, Dept. of Laboratory Medicine at Boston Childrens Hospital, and an Assistant Professor of Pathology at Harvard Medical School, in Boston Massachusetts. His research focuses on adaptation of mass spectrometry to clinical assays and biomarkers of cognitive function. He has…
Read MoreClaritas Genomics serves children affected with complex genetic disorders by providing timely and accurate diagnosis, resolving families long search for answers. Our goal is to radically change the field of pediatric genomic medicine by enabling the integration of genomics into clinical practice to inform, guide and improve medical treatment for kids around the world. Claritas…
Read MoreShipping Q: Where do I send a specimen? A: Claritas Genomics Attn: Specimen Processing 99 Erie Street Cambridge, MA 02139 Q: How do I send a specimen? A: All specimens should be packed and shipped according to US Department of Transportation (DOT) and International Air Transportation Association (IATA) regulations. Please consult the shipping guidelines before…
Read MoreTest Background Rubinstein-Taybi syndrome is characterized by intellectual disability, postnatal growth retardation, microcephaly, broad thumbs and halluces, and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Approximately 10% of affected individuals have a 16p13.3 microdeletion…
Read MoreTest Background Over 90% of patients with classical DiGeorge syndrome or velocardiofacial syndrome (classical DGS/VCFS) have a de novo 22q11.2 deletion, and 7% of patients have an inherited 22q11.2 deletion from a parent. Deletions in this region are also associated with other phenotypes including isolated cardiovascular malformations and Opitz G syndrome. A small number of…
Read MoreClaritas Genomics Launches Next Generation Sequencing Panel to Detect Genetic Causes of Nephrotic Syndrome in Children CAMBRIDGE, Mass., Sept. 11, 2014 /PRNewswire-USNewswire/ Claritas Genomics, a clinical laboratory serving the DNA-based diagnostic testing needs of childrens hospitals, announced the availability of a next-generation sequencing assay that investigates 28 genes that represent single-gene causes of pediatric…
Read MoreTest Background Mucopolysaccharidosis type I (MPSI), a lysosomal storage disease, is an autosomal recessive condition caused by alpha-L-iduronidase (IDUA) deficiency resulting in progressive accumulation of partially degraded mucopolysaccharides in the lysosomes. MPSI is a progressive multisystem disorder that constitutes a clinical spectrum ranging in severity. While affected individuals have traditionally been classified as having one of…
Read MoreIn June 2014, Claritas joined Cerners Reference Lab Network as a Program Partner. RLN enhances communication between reference labs and clinical teams, thereby improving the efficiency at which tests are ordered and reports are returned. Learn more here.
Read MoreTest Background * Next generation sequencing to identify point mutations, small deletions and insertions, and splice site mutations * 10 genes that are most frequently causative of childhood-onset muscular dystrophy including CAPN3, CAV3, DMD, FKRP, LMNA, SGCA, SGCB, SGCD, SGCG, TRIM32 The muscular dystrophies are a genetically heterogeneous group of conditions that are clinically classified…
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