Genetics and Genomics Diagnostic Laboratory

Molecular Genetics Laboratory | Hematologic Disorders

Hematologic Disorders

The Laboratory of Genetics and Genomics offers genetic testing for hematologic disorders. The laboratory draws extensive clinical expertise from recognized leaders in hematology and nephrology to provide comprehensive testing and expert interpretation of results. The Laboratory of Genetics and Genomics is CAP and CLIA certified.

Introducing: New Sequencing Panels for Erythrocytosis and Thrombocytosis

The Laboratory of Genetics and Genomics introduces two new sequencing panels for Erythrocytosis and Thrombocytosis. Our Erythrocytosis panel uses a combination of Next-Generation Sequencing (NGS) and Sanger sequencing to detect variants in nine genes known to cause erythrocytosis. Our Thrombocytosis panel uses NGS to detect variants in four genes that are associated with thrombocytosis.

Erythrocytosis Gene Sequencing Panel | Thrombocytosis Gene Sequencing Panel | Test Requisition

Expanded: Platelet Disorders Gene Sequencing Panel

The Platelet Disorders Gene Sequencing Panel at Cincinnati Children’s has expanded to 67 clinically relevant genes related to genetically inherited platelet disorders. This comprehensive panel analyzes variants in genes related to adhesion and activation receptors, secretion and membrane regulation, and platelet production utilizing Whole Exome Sequencing technology.

Platelet Disorders Gene Sequencing Panel | Test Requisition

Additional Tests Offered

• ADAMTS13 gene sequencing | Test Requisition
• aHUS Genetic Susceptibility Panel | Test Requisition
• Bone Marrow Failure Syndromes | Test Requisition
  • Diamond Blackfan Anemia | Test Requisition
  • Dyskeratosis Congenita | Test Requisition
  • Fanconi Anemia | Test Requisition
  • Inherited Neutropenia | Test Requisition
• Dense Deposit Disease and C3 Glomerulonephritis | Test Requisition
• Factor V Leiden | Test Requisition
• Hemoglobin gene sequencing (alpha, beta, delta and gamma-globin) and deletion analysis (alpha and beta-globin gene clusters) | Testing Guidelines | Testing Algorithm | Test Requisition 
• Hemolytic Anemia | Test Requisition | Testing Algorithm 
  • Congenital Dyserythropoietic Anemia (CDA) | Test Requisition
  • RBC Membrane Disorders | Test Requisition
  • RBC Enzymopathy Panel | Test Requisition
• Hereditary Hemochromatosis | Test Requisition 
• Thrombophilic Polymorphism Panel: Factor V Leiden | Prothrombin | Test Requisition

Note: Any gene on the panels specified above may also be ordered individually as a Sanger-based sequencing test. 

Why Choose Us? 

Our lab will give you access to unparalleled clinical expertise. We provide guidance in:

• Test selection
• Clinical interpretation, recommendation for follow-up testing and medical management
• Genetic counseling
• Coordination of studies for at-risk family members