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Posts
- Abstract: A Comprehensive Multi-Gene Sequencing and Deletion/Duplication Panel for the Detection of Common and Rare Genetic Causes of Epilepsy.
- Abstract: A Dual Approach to ACADVL Molecular Analysis by Sequencing and Targeted Array CGH in the Assessment of VLCAD Deficiency
- Abstract: A large autism cohort reveals genomic imbalances associated with many known syndromic deletions and also those inked to potentially novel neurodevelopmental genes
- Abstract: Chromosome Microarray (CMA): Results Impact Medical Management: A Demonstration of the Clinical Utility of CMA Testing
- Abstract: Comprehensive analysis of 101 nuclear genes for molecular diagnosis of mitochondrial disorders.
- Abstract: Comprehensive Analysis of Entire Mitochondrial Genome by Long-Range PCR and Next Generation Sequencing for the Diagnosis of Mitochondrial Disorders: Yield of 216 Cases
- Abstract: Comprehensive Molecular Diagnostic Testing Using a Next-generation Sequencing Panel and Exonlevel Array CGH Identifies Mutations in a Broad Spectrum of Epilepsy Phenotypes
- Abstract: Copy Number Changes and Phenotypes Associated with Seizures in a Cohort Analyzed by High Density Whole Genome Array
- Abstract: Digenic Inheritance Involving the USH2A and ABCA4 Genes in One Family with arRP
- Abstract: Distribution of sarcomere vs. non-sarcomere gene mutations across over 2400 hypertrophic and dilated cardiomyopathy patients.
- Abstract: Genetic Testing for Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy: Identification of multiple mutations in a large cohort of patients
- Abstract: Genetic Testing Panels as an Aid to Diagnosis of Heritable Dilated Cardiomyopathy
- Abstract: Molecular Testing in Fetuses with Holoprosencephaly and Normal Karyotype
- Abstract: Multi-Gene Testing For Noonan Spectrum Disorders In A Prenatal Setting
- Abstract: Mutation analysis of the SOX2 and OTX2 genes in 235 patients with developmental eye disorders
- Abstract: Novel Large Deletion in the ACTA1 Gene in a Child with Autosomal Recessive Nemaline Myopathy
- Abstract: PCR-Based Enrichment and Next-Generation Sequening of 101 Nuclear Genes for the Diagnosis of Mitochondrial Disorders
- Abstract: PCR-Based Target Sequence Enrichment and Next Generation Sequencing of 24 Nuclear Genes for the Diagnosis of Mitochondrial Disorders: Yield of 262 Cases
- Abstract: Prenatal Testing for Noonan Spectrum Disorders in fetuses with Increased NT and Cystic Hygroma
- Abstract: Prenatal testing for Noonan spectrum disorders using a multi-gene sequencing panel in fetuses with abnormal ultrasound findings
- Abstract: The Utility of Array CGH in the Prenatal Detection/diagnosis of Rubinstein Taybi Syndrome.
- Abstract: Towards a whole genome map of heritable copy number variation
- Abstract: Two novel RRM2B gene mutations in a patient with Autosomal Recessive Progressive External Ophthalmoplegia, Encephalopathy and Cytochrome C Oxidase Deficiency
- Abstract: Utility of a comprehensive multi-gene testing panel for epilepsy and evaluation of the expectations for whole exome sequencing in these disorders
- Announcement
- ARVC Patient Guide
- ARVC Physician Guide
- ARVC Results Video: Negative for a familial mutation
- ARVC Results Video: Negative for full panel testing
- ARVC Results Video: Positive
- ARVC Results Video: Variant of Unknown Significance
- Atroso at Everdum
- BrS Results Video: Negative for a familial mutation
- BrS Results Video: Negative for full panel testing
- BrS Results Video: Positive
- BrS Results Video: Variant of Unknown Significance
- Brugada Syndrome Patient Guide
- Brugada Syndrome Physician Guide
- Catecholaminergic Polymorphic Ventricular Tachycardia Patient Guide
- Catecholaminergic Polymorphic Ventricular Tachycardia Physician Guide
- Copy number variations and UPD detection
- CPVT Case Study: de novo mutation
- CPVT Results Video: Negative for a familial mutation
- CPVT Results Video: Negative for full panel testing
- CPVT Results Video: Positive
- CPVT Results Video: Variant of Unknown Significance
- DCM Case Study: Danon Disease presenting as DCM
- DCM Case Study: LMNA
- DCM Patient Guide
- DCM Physician Guide
- DCM Results Video – Negative for a familial mutation
- DCM Results Video: Negative for full panel testing
- DCM Results Video: Positive
- DCM Results Video: Variant of Unknown Significance
- Epilepsy Case Study: Epileptic encephalopathy caused by an STXBP1 mutation
- Epilepsy Case Study: GLUT1 deficiency caused by an SLC2A1 deletion
- Epilepsy Case Study: Infantile spasms caused by an ARX mutation
- Epilepsy Case Study: Pyridox(am)ine-5’-phosphate oxidase deficiency
- Epilepsy Patient Guide
- Epilepsy Physician Guide
- Exome Case Study: XomeDx used to diagnose a child with mild Rubinstein-Taybi syndrome
- Expanded Noonan Syndrome Panel
- GeneDx arrays now detect copy number variations and UPD.
- GeneDx now tests for 38 genes associated with dilated cardiomyopathy
- GeneDx unveils XomeDx
- Genetic Testing for Cerebral Cavernous Malformations
- Genetic testing for Juvenile Polyposis Syndrome (JPS)
- HCM Case Study: Fabry Disease presenting as HCM
- HCM Case Study: Mitochondrial disease presenting as HCM
- HCM Case Study: TTR Amyloidosis presenting as HCM
- HCM Patient Guide
- HCM Physician Guide
- HCM Results Video: Negative for a familial mutation
- HCM Results Video: Negative for full panel testing
- HCM Results Video: Positive
- HCM Results Video: Variant of Unknown Significance
- Licensing
- Long QT Syndrome Patient Guide
- Long QT Syndrome Physician Guide
- Lorem Ipsum the Dolor Jasamer Atejas
- LQTS Results Video: Negative for a familial mutation
- LQTS Results Video: Negative for full panel testing
- LQTS Results Video: Positive
- LQTS Results Video: Variant of Unknown Significance
- Mito Case Study: CPEO caused by a novel deletion in the mitochondrial genome
- Mito Case Study: Mitochondrial disease caused by the A3243G point mutation
- Mitochondrial Patient Guide
- Mitochondrial Physician Guide
- New Mitochondrial test at GeneDx!
- New MODY Sequencing Panel at GeneDx
- New SCID Panel Testing at GeneDx!
- NOW AVAILABLE! XomeDxSlice – EB
- Post-Mortem Sample Collection
- Postnatal Array Flipbook
- Precounseling video for known mutation testing for DCM
- Precounseling video for known mutation testing for HCM
- Precounseling video for known mutation testing for LQTS
- Precounseling video for patients with a family history of DCM
- Precounseling video for patients with a family history of HCM
- Precounseling video for patients with a family history of LQTS
- Precounseling video for patients with DCM
- Precounseling video for patients with HCM
- Precounseling video for patients with LQTS
- Precounseling video for variant of unknown significance testing for DCM
- Precounseling video for variant of unknown significance testing for HCM
- Precounseling video for variant of unknown significance testing for LQTS
- Prenatal Array Flipbook
- Test News and Press Release
- What We Do
- When Rare Is Common
- XomeDx Brochure
- XomeDx Patient Guide
- XomeDx Video: Information for Patients
- XomeDx Video: Information for Physicians
- XomeDx: Lecture by Sherri Bale
