Laboratory Medicine Program

DICER-associated syndrome (DICER1) - Hereditary

Clinical Decription:
DICER-associated tumour predisposition syndrome is a rare hereditary condition that is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. Note: This is a blood test for individuals with clinical features and/or a family history of features suggestive of DICER-associated tumour predisposition syndrome. It is not a tumour test for somatic gene variants that provide diagnostic, prognostic or therapeutic information.

Method: Next-Generation Sequencing (NGS)

Component Tests Used: n/a

Reference Ranges Used:
Reference ranges for this test are not available online. However, they are included in all test results. For more information, please call us.

Specimen Type: peripheral blood (EDTA)
Volume: 5 mL (minimum: 2 mL)

Shipping: room temperature or 4C

Special Instructions: See requisitions for the full list of available testing and special instructions.

Testing Schedule(s): Please call

Turnaround Time: None

For more information, call 416.340.5227 or 1.866.865.5227