chromosomal microarray Genomic Approaches Boost Rare Disease Diagnoses in Middle Eastern Patient Population Findings from 1,000 rare disease cases assessed at Al Jalila Children's Specialty Hospital in Dubai highlight the importance of access to genomics-based diagnostic approaches. Researchers Explore Real-Time CNV Detection in Patient Samples With Nanopore Sequencing Premium Scientists from the University of Florence in Italy applied nanopore sequencing to effectively detect known copy number variants in a small cohort of patients. Invitae Aims to Aid 'Diagnostic Odyssey' With New Neurodevelopmental Genetic Test Suite Premium The package comprises a battery of genetic tests to detect an array of developmental delays, intellectual disabilities, and autism spectrum disorders. EHR-Based Model Predicts Patients Who May Benefit from Genetic Testing for Rare Disease Researchers from Vanderbilt University Medical Center said their approach could systematize who undergoes testing and shorten diagnostic odysseys. CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing. May 14, 2020 Small Portion of Individuals With Autism Undergo Recommended Clinical Genetic Testing Feb 11, 2020 Oxford Gene Technology Expands NGS Offering Into Constitutional Cytogenetics Premium Jan 24, 2019 Lineagen Hopes Telehealth Partnership Will Expedite Return of Autism Test Results Premium Jan 10, 2019 Lineagen Taps PWNHealth to Increase Consumer Access to Genetic Tests Aug 27, 2018 Studies Provide Conflicting Results on Impact of Preimplantation Genetic Screening Premium Aug 2, 2017 Invitae's Transition to 'Genomic Information Company' Likely to Include More M&A Activity Premium Jul 31, 2017 Invitae Acquires Good Start Genetics, CombiMatrix Feb 22, 2017 CombiMatrix Q4 Revenues Rise With Growing Reproductive Test Business Aug 10, 2016 Universal Diagnostic Laboratories to Market Combimatrix Miscarriage Test in California Jun 29, 2016 CombiMatrix Publishes 8K-Sample Study Supporting Superiority of Array Testing for Miscarriage Premium Jun 8, 2016 Ambry Genetics Ramping Up Testing Volume With Recently Opened 'Super Lab' Premium May 4, 2016 CombiMatrix Q1 Revenues Up 28 Percent Jan 28, 2016 Study Supports Use of Sequencing in Clinical Cytogenetics, Pathogenic CNV Detection Sep 1, 2015 Study Reports Unique Value for Arrays, Exome-Seq in ASD Diagnosis Premium Aug 19, 2015 UConn Study Suggests SNP Arrays Add Value to Recurrent Pregnancy Loss Diagnosis Premium Jul 2, 2015 ASHG Position Statement Provides Guidance for Genetic Testing in Children and Adolescents Jun 23, 2015 Study Shows Prognostic Significance of Loss of Heterozygosity in AML, Supports Array-based Testing Premium Apr 21, 2015 Researchers Uncover Genomic Imbalance in Children with Chronic Kidney Disease Jan 23, 2015 ReproSource Offering CombiMatrix's Miscarriage Analysis Test Nov 7, 2014 Microarray-based NIPT Firm CellScape Shuts Down Load More Breaking News US Supreme Court Declines to Hear CareDx Organ Transplant Patent Infringement Case GenomeWeb Top 40 Down 10 Percent in September, Outpacing Decline in Broader Market Natera Submits Signatera Bladder Cancer PMA Module to FDA FDA Grants Emergency Use Authorizations for POC COVID Tests from Tangen Biosciences, SD Biosensor Top Five Articles on GenomeWeb Last Week: FDA Proposal for LDT Oversight, Adela $48M Financing, More The Scan Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants. Small Study of Gene Editing to Treat Sickle Cell Disease In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema. Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.