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Expanded Bone Marrow Failure Syndromes Panel (60 genes)Our Expanded Bone Marrow Failure Syndromes panel is specifically designed to diagnose the most common genetic causes of bone marrow failure including dyskeratosis congenita, Diamond Blackfan anemia, Fanconi anemia, familial bone marrow failure, Shwachman Diamond syndrome and congenital amegakaryocytic thrombocytopenia, as well as inherited causes of neutropenia. Inherited bone marrow failure syndromes account for approximately 25 percent of pediatric patients and about 10 percent of young adult patients who present with aplastic anemia. |
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Epidermolysis Bullosa PanelThe Cincinnati Children’s Epidermolysis Bullosa (EB) Center and the Molecular Genetics Laboratory have partnered to develop a next-generation sequencing (NGS) panel that analyzes 21 genes associated with all subtypes of EB, including EB simplex, junctional EB, dystrophic EB and Kindler syndrome. |
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Targeted Deletion / Duplication AnalysisOur CAP / CLIA-certified diagnostic laboratory now provides targeted deletion / duplication analysis by comparative genomic hybridization (CGH). To discuss targeted deletion and duplication analysis for your patient with a genetic counselor, call 513-636-4474. |
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Comprehensive Testing for Thrombotic Microangiopathy (aHUS and TTP)In conjunction with the Cancer and Blood Diseases Institute and Nephrology Clinical Laboratories, we now offer comprehensive testing for thrombotic microangiopathy (aHUS and TTP) including aHUS Genetic Susceptibility Panel, ADAMTS13 testing, TMA profile and HUS complement Activation Panel. |
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Whole Exome SequencingWe now offer whole exome sequencing for patients with complex phenotypes for which single gene tests or gene panels are not available or cost effective. |
We now offer two gene sequencing panels that utilize Whole Exome Sequencing (WES) technology.
Our Immunology Exome utilizes WES technology to analyze a predefined list of 351 genes that are associated with immune system defects or related heritable disorders.
Immunology Exome | Test Requisition
Our Platelet Disorders Gene Sequencing Panel uses WES technology to provide comprehensive analysis of 53 clinically significant genes to identify inherited forms of platelet dysfunction.