CHOP Researchers Find NTRK Fusions More Common than Expected in Pediatric Tumors
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CHOP researchers have found that NTRK fusions are more common than expected in pediatric tumors, which could lead to better screening and treatment.
Division of Genomic Diagnostics News and Updates
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Adding Parental Testing May Improve Diagnosis in Child Epilepsy
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CHOP researchers report that including parental testing in clinical genetic tests improves diagnosis to help guide treatment for pediatric epilepsy.
CHOP Highlighted in Nature Feature about DNA Sequencing Technology
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CHOP researchers were profiled in a special technology feature for Nature about the field of DNA and whole-genome sequencing.
CHOP Expert Proposes New Model to Continuously Update Genetic Test Results
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A CHOP scientist advocates providing automated updates to clinical genetics tests to account for new knowledge that may benefit patients and families.
Children’s Hospital of Philadelphia Announces Major $50 Million Pediatric Genetics Research and Patient Care Initiative
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The $50 million Roberts Collaborative will position CHOP at the forefront of pediatric genetics research and will take a multidisciplinary approach toward diagnostics, clinical management, consulting, therapeutics and research driven by the power of genetics.
AUDIOME Genetic Test for Nonsyndromic Hearing Loss Now Available in CHOP’s Division of Genomic Diagnostics
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The Division of Genomic Diagnostics at Children’s Hospital of Philadelphia has launched AUDIOME, a comprehensive genetic test for the diagnosis of nonsyndromic hearing loss in children (NSHL).
CHOP Scientists Participated in Discovering Rare Resilient Genes, Protecting Against Severe Childhood Diseases
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CHOP experts contributed to the Resilience Project—detecting people who are protected from their own gene mutations that usually cause severe childhood diseases.
Comprehensive Cancer Gene Panels Now Available in CHOP’s Division of Genomic Diagnostics
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The Division of Genomic Diagnostics at CHOP has launched a series of hereditary and somatic cancer gene panels to facilitate a precision medicine approach to cancer diagnostics.
Marilyn M. Li, MD, Joins The Children's Hospital of Philadelphia
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The Division of Genomic Diagnostics is excited to welcome Marilyn M. Li, MD, to The Children's Hospital of Philadelphia.
Lab Test Expedite Donor Matches, Improve Outcomes in Transplants
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CHOP is the first center to offer a comprehensive HLA typing test. Using new gene-sequencing tools, the new test will expedite donor matching and improve transplantation outcomes.