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.

Expanded Erythrocytosis Gene Sequencing Panel

The new Erythrocytosis Gene Sequencing Panel uses whole exome sequencing technology to detect variants in 27 genes that are either known to be associated with Erythrocytosis or diseases with a polycythemia phenotype or genes in or related to the oxygen-sensing pathway that is involved in the pathogenesis of erythrocytosis. Whole Exome Sequencing (WES) is available as a reflex option for Erythrocytosis Gene Sequencing Panel cases with negative or uncertain findings.

Erythrocytosis 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
• Platelet Disorders Gene Sequencing Panel | Test Requisition | Reflex to Whole Exome Sequencing is available
• Thrombocytosis Gene Sequencing Panel | 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