Protein NBN, just like BRCA1, helps to repair damaged genetic information in cells. The test detects carrier state of mutation 657del5 in gene NBS1. Homozygous carriage (all copies of a gene with mutation) 657del5 is responsible for a genetic disease, the so called Nijmegen breakage syndrome, NBS, which is characterized, among others, by increased risk of developing neoplasm. While the fact of carrying mutation 657del5 increases by ca. 2 times the risk of developing breast cancer and by ca. 4 times prostate cancer, as compared to people without the mutation.
Test material: full blood (EDTA), cheek swab
Transfer method: blood: 4-10°C (a set for blood tests); cheek swab: room temperature (a set for cheek swabs)
Testing method: Direct sequencing of respective gene’s fragments
Delivery date: up to 10 business days