Guidelines from bodies including the UK Clinical Molecular Geneti

Guidelines from bodies including the UK Clinical Molecular Genetics Society, the European Molecular Genetics Quality Network (EMQN), and the Swiss Society of Medical Genetics recommend standard practice in several areas including validation

and verification of molecular genetic tests, DNA sequencing, quality control and pathogenicity prediction of sequence variants as well as for disease-specific issues. EuroGenTest maintains a guideline listing [34]. Laboratory accreditation to national or international standards ensures that common standards of practice are maintained. while quality management software facilitates organization and regular review of laboratory management and

standard operating procedure documents. Use of check details standard Human Genome Organisation Gene Nomenclature ABT-888 nmr Committee (HGNC) gene names [35], along with Human Genome Variation Society (HGVS) sequence nomenclature [36] and reference to a specified RefSeq, reduces errors in documenting variants identified by different laboratories. External quality assessment (EQA) for genetic analysis is available for a limited number of bleeding disorders (currently haemophilia A, haemophilia B and von Willebrand disease) through bodies including the UK National External Quality Assessment Survey (NEQAS) for Blood Coagulation. Participation in regular surveys leads to improvement in clerical and genotyping accuracy and in the completeness of sequence variant interpretation in genetic analysis

reports [37]. Generic EQA for DNA sequence analysis and interpretation is also available through bodies including EMQN. Sharing best laboratory practice and provision Clomifene of backup laboratory analysis when problems arise is made possible by participation in laboratory networks e.g. the UK Haemophilia Centre Doctors’ Organisation (UKHCDO) Genetic Testing Network [38]. Next generation DNA sequencing will shortly start to contribute to identification of exonic and currently ‘missing’ intronic and transcriptional sequence variants, enhancing the range of bleeding disorders that can readily be analysed, while helping to reduce analysis costs. Molecular genetic analyses in families with haemophilia and other inherited bleeding disorders is a common laboratory investigation. The results of genotypes are unequivocal with no borderline values, but a failure to correctly identify a mutation or to misinterpret its significance can have major implications for an individual, his/her family and offspring. In contrast to phenotypic testing in which strict quality control is adhered to, in the field of haemophilia, molecular genetic testing, many/most laboratories do not appear to participate in any external quality assurance (EQA) schemes.

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