Laboratory Medicine Program

Nijmegen Breakage syndrome (NBN)

Clinical Decription:
NIjmegen breakage syndrome is a rare hereditary condition that is characterized by progressive microcephaly, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, an increased risk for cancer, and premature ovarian failure in females. Individuals with a personal and/or family history of features suggestive of this condition may be eligible for genetic testing. Please consult the Cancer Care Ontario document outlining eligibility for genetic testing for hereditary cancer (https://www.cancercareontario.ca/en/guidelines-advice/types-of-cancer/70161) and/or contact the lab for additional information. Note: This is a blood test for individuals with clinical features and/or a family history of Nijmegen breakage 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
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