Chromosome breakage syndromes
Fanconi anaemia Bloom syndrome (BLM) Ataxia telangiectasia (ATM) Nijmegen syndrome (NBS1)
PURPOSE OF PROGRAMME:
Analysis and interpretation of chromosome breakage syndromes: online metaphase analysis and/or DNA for molecular studies.
MATERIAL PROVIDED: DNA in TE buffer, Images: stained chromosomes
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 2
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
Online analysis of stained metaphase images from patients with chromosome breakage syndromes and a control sample. DNA sample for molecular testing.
Details of the performance criteria for this programme can be obtained from UK NEQAS Genomics (GenQA) directly.
Telephone: +44 (0) 131 2426898
GenQA (Genomics Quality Assessment) provides external quality assessment (EQA) / proficiency testing (PT) to the genomics community worldwide. GenQA EQAs cover the entire clinical genomics service from patient counselling, sample preparation, testing processes, results interpretation and reporting. Laboratories and individual clinicians have access to more than 100 unique EQAs available for a range of rare and inherited disorders and acquired diseases. Please click here for an overview of GenQA