Nijmegen breakage syndrome
Analysis ID 156
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Nijmegen breakage syndrome
OMIM #251260
Clinical information Nijmegen breakage syndrome (NBS) is an autosomal recessive genetic condition characterized by short stature, microcephaly, characteristic facial dysmorphism, recurrent respiratory infections, increased risk of cancer, intellectual disability, and other symptoms. Patients affected by NBS have immunodeficiency, with abnormally low levels of immunoglobulin G (IgG) and immunoglobulin A (IgA), as well as T-cell dysfunction. Individuals with NBS have an increased risk of developing cancer, mostly non-Hodgkin lymphoma.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in ETDA tube; DNA sample
Analyzed genes NBS1
Analysis description Testing for the homozygous mutation 657del5 in the NBS1 gene
Analysis indication Nijmegen breakage syndrome
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics and Oncology