Disorders

Nijmegen Breakage Syndrome

Synonym(s): Ataxia-Telangiectasia Variant 1, AT-V1, Berlin Breakage Syndrome

Gene	Locus	Protein
NBN	8q21-q24	Nibrin

Laboratory	Test Method	Prenatal	Carrier *
2nd School of Medicine Charles University - Department of Child Neurology, DNA Laboratory - Praha 5, Czech Republic	• Targeted mutation analysis
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
InVitae Corporation - San Francisco, CA, USA
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA	• Chromosome breakage studies
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Targeted mutation analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain	• Chromosome breakage studies
UCLA Medical Center, DNA Repair Clinical Testing Laboratory - Los Angeles, CA, USA	• Targeted mutation analysis • Protein analysis • Protein expression
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic	• Targeted mutation analysis
University of California Los Angeles, UCLA Orphan Disease Testing Center (ODTC) - Los Angeles, CA, USA	• Targeted mutation analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.