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Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience
Cincinnati Children’s Receives Award for Newborn Screening Data Resource
Join our team! Learn more about our genetic counselor (Molecular Lab) opportunity.
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.
Download test information | Download requisition
The 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.Download test sheet | Download requisition
Our 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.
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.
We 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 have new next-generation sequencing panels for:
Autoimmune lymphoproliferative syndrome
Familial hemophagocytic lymphohistiocytosis
Our other NGS panels are:
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel
Bone Marrow Failure Syndromes Panel
Chromosome Breakage Disorders Panel
Dyskeratosis Congenita Panel
Fanconi Anemia Panel
Fatty Acid Oxidation Disorders − MetaboSeq
Sensorineural Hearing Loss − OtoSeq
Severe Combined Immunodeficiency Panel
Check back frequently; more NGS panels are planned.
We now have validated saliva collection kits for DNA collection in patients with low white counts and previous bone marrow transplantation, or for use in other situations where venipuncture is not practical. Call 513-636-4474 for a free saliva cell collection kit.
3333 Burnet Avenue, Cincinnati, Ohio 45229-3026 | 1-513-636-4200 | 1-800-344-2462 | TTY:1-513-636-4900
New to Cincinnati Children’s or live outside of the Tristate area? 1-877-881-8479
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