Testing for the most common NBN (NBS1) gene mutation – Nijmegen breakage syndrome, primary microcephaly

Test covered by the reimbursement:
YES
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Buccal swab …
Turnover time:
3 weeks
STATIM:
3 days

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Buccal swab | 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from chorionic villi | 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from amniotic fluid | 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from cordocentesis | 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
DNA isolated from the product of conception | 50–100 ng/μL in microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Cultured cells | 1.5 ml of cultured cells in a microtube (Eppendorf type)
Storage after examination: 180 days 2 – 8°C

Quick test description:

Testing for the most common c.511A>G (p.Ile171Val), c.643C>T (p.Arg215Trp) and c.657_661delACAAA (p.Lys219Asnfs*16) mutations in the NBN gene (NBS1) responsible for Nijmegen breakage syndrome by Sanger sequencing.

Test details:

The NBN gene encodes the nibrin protein, which is involved in repairing acquired DNA defects. Nibrin deficiency results in autosomal recessive hereditary Nijmegen breakage syndrome (NBS) characterised by congenital small head circumference (congenital microcephaly) with general growth retardation, immune deficiency, sensitivity to ionizing radiation and increased risk of tumours, which has also been shown in heterozygotes. The carrier of the mutation in this gene has an increased risk of developing cancers, especially breast cancer (female) and prostate cancer (male). Some studies also report a slightly increased risk of other cancers: melanoma, ovarian cancer and leukaemia or lymphoma. The literature does not specify a specific monitoring plan. For women, the recommended follow-up applies as for women at moderate risk of breast cancer or empirical risk based on family history (Claus model). For men, prostate cancer screening from the age of 45 is recommended. The use of antioxidants and protection from ionizing radiation (X-rays, UV) is also recommended. The most common mutations c.511A>G (p.Ile171Val), c.643C>T (p.Arg215Trp) and c.657_661delACAAA (p.Lys219Asnfs*16) in the NBN gene (NBS1) are detected by Sanger sequencing.                                                        
 

back to list