Genetics and Genomics Diagnostic Laboratory
Laboratory News

Molecular Genetics Laboratory News

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.

Download test information | Download requisition

Epidermolysis Bullosa Panel

EBSeq. 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.
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Targeted Deletion / Duplication Analysis

Custom gene sequencing. 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.

Comprehensive Testing for Thrombotic Microangiopathy (aHUS and TTP)

TMA testing. 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.

Whole Exome Sequencing

ExomeSeq. 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.

New! Gene Sequencing Panels

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.

Platelet Disorders Gene Sequencing Panel | Test Requisition

New Cell Collection Kits

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.