Hematologic Disorders

Some disorders of the blood are hereditary, meaning they are passed down from generation to generation. Hereditary hematologic disorders range in intensity from mild to very severe. These disorders include red blood cell shape disorders, red blood cell enzyme disorders, hemoglobin disorders, platelet disorders, and bleeding, coagulation factor deficiency, and thrombophilia disorders.

Genetic testing can assist with making the proper diagnosis of the disorder and effectively managing the patient. Through the Northwell Health Genomics Alliance, genetic testing is available for many hereditary hemotologic disorders. Common tests are provided below:

Commonly Ordered Tests

• GD105 Severe congenital neutropenia, ELA2 Sequencing
• GD109 Shwachman-Diamond Syndrome, SBDS Sequencing
• GD303 Severe Congenital Neutropenia, HAX1 Sequencing
• GD1061 Diamond-Blackfan anemia, RPS19 Sequencing
• GD107 Dyskeratosis Congenita, TERC Sequencing
• GD104 Congenital Amegakaryocytic Thrombocytopenia, MPL Sequencing

See All Tests for Hematologic Disorders