RESUMEN
BACKGROUND: The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommittee of KSQACL performed two trials for cytogenetics and molecular genetics surveys in 2009. METHODS: A total of 67 laboratories participated in the cytogenetic surveys, 30 laboratories participated in the FISH surveys, and 94 laboratories participated in the molsecular genetics surveys in 2009. RESULTS: Almost of them showed acceptable results. However, some laboratories showed unacceptable results for the karyotype nomenclature and detection of complex cytogenetic abnormalities in hematologic neoplasms, and most of them except one showed acceptable results in FISH surveys. The molecular genetics surveys included various tests: M. tuberculosis detection, hepatitis B (HBV) and C virus (HCV) detection and quantification, human papilloma virus (HPV) genotyping, Influenza A (H1N1) detection, gene rearrangement tests for leukemias and lymphomas, apolipoprotein E (APOE) genotyping, methylenetetrahydrofolate reductase (MTHFR) genotyping, hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), and genetic tests for achondroplasia (FGFR3), FMS-like tyrosine kinase 3 (FLT3), JAK2, BRAF, hereditary disorders such as spinal muscular atrophy, Huntington disease (HD), spinocerebellar ataxia (SCA), Prader-Willi/Angelman syndrome (PWS/AS), mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS), myoclonic epilepsy ragged red fiber (MERRF), wilson disease (ATP7B) and cancer-associated genes (KRAS). Molecular genetic surveys showed excellent results in most of the participants. CONCLUSIONS: External quality assessment program for genetic analysis in 2009 was proved to be helpful in continuous education and evaluation of quality improvement.
Asunto(s)
Humanos , Acondroplasia , Acidosis Láctica , Apolipoproteínas , Mama , Aberraciones Cromosómicas , Citogenética , Epilepsias Mioclónicas , Tirosina Quinasa 3 Similar a fms , Reordenamiento Génico , Neoplasias Hematológicas , Hepatitis B , Degeneración Hepatolenticular , Enfermedad de Huntington , Gripe Humana , Cariotipo , Corea (Geográfico) , Leucemia , Linfoma , Metilenotetrahidrofolato Reductasa (NADPH2) , Encefalomiopatías Mitocondriales , Biología Molecular , Atrofia Muscular Espinal , Neoplasias Ováricas , Papiloma , Control de Calidad , Mejoramiento de la Calidad , Ataxias Espinocerebelosas , Tuberculosis , VirusRESUMEN
The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in 2008. A total of 41 laboratories participated in the cytogenetic surveys, and most of them showed acceptable results. However, some laboratories showed unacceptable results for the karyotype nomenclature and detection of complex cytogenetic abnormalities in hematologic neoplasias. The molecular genetics surveys included various tests: M. tuberculosis detection, hepatitis B (HBV) and C virus (HCV) detection and quantification, human papilloma virus (HPV) genotyping, gene rearrangement tests for leukemias and lymphomas, apolipoprotein E (APOE) genotyping, methylenetetrahydrofolate reductase (MTHFR) genotyping, hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), and genetic tests for hereditary disorders such as spinal muscular atrophy (SMA), Huntington disease (HD), spinocerebellar ataxia (SCA), Prader-Willi/Angelman syndrome (PWS/AS), mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS), myoclonic epilepsy ragged red fiber (MERRF), wilson disease (ATP7B) and cancer-associated genes (KRAS). Molecular genetic surveys showed excellent results in most of the participants. External quality assessment program for genetic analysis in 2008 was proved to be helpful in continuous education and evaluation of quality improvement.
Asunto(s)
Humanos , Acidosis Láctica , Apolipoproteínas , Mama , Aberraciones Cromosómicas , Citogenética , Epilepsias Mioclónicas , Reordenamiento Génico , Hepatitis B , Degeneración Hepatolenticular , Enfermedad de Huntington , Cariotipo , Corea (Geográfico) , Leucemia , Linfoma , Metilenotetrahidrofolato Reductasa (NADPH2) , Encefalomiopatías Mitocondriales , Biología Molecular , Atrofia Muscular Espinal , Neoplasias Ováricas , Papiloma , Control de Calidad , Mejoramiento de la Calidad , Ataxias Espinocerebelosas , Tuberculosis , VirusRESUMEN
The importance of quality control for dramatically growing genetic tests continues to be emphasized with increasing clinical demands. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in 2007. Cytogenetic surveys were performed by 42 laboratories and answered correctly in most laboratories except some problems in karyotype nomenclature and the detection of complex cytogenetic abnormalities in hematologic neoplasias. The molecular genetics surveys included many kinds of tests: M. tuberculosis detection, hepatitis B (HBV) and C virus (HCV) detection and quantification, human papilloma virus (HPV) genotyping, gene rearrangement tests for leukemias and lymphomas, apolipoprotein E (APOE) genotyping, methylenetetrahydrofolate reductase (MTHFR) genotyping, hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), and genetic tests for hereditary conditions such as Duchenne muscular dystrophy (DMD), Huntington disease, spinocerebellar ataxia, spinal muscular atrophy, and Prader-Willi/Angelman syndrome. Molecular genetic surveys showed excellent results in most of participants. External quality assessment program for genetic analysis in 2007 was proved to be helpful in continuous education and evaluation of quality improvement.
Asunto(s)
Humanos , Apolipoproteínas , Mama , Aberraciones Cromosómicas , Citogenética , Reordenamiento Génico , Hepatitis B , Enfermedad de Huntington , Cariotipo , Corea (Geográfico) , Leucemia , Linfoma , Metilenotetrahidrofolato Reductasa (NADPH2) , Biología Molecular , Atrofia Muscular Espinal , Distrofia Muscular de Duchenne , Neoplasias Ováricas , Papiloma , Control de Calidad , Ataxias Espinocerebelosas , Tuberculosis , VirusRESUMEN
The importance of quality control for dramatically growing genetic tests continues to be emphasized with increasing clinical demands. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in 2007. Cytogenetic surveys were performed by 42 laboratories and answered correctly in most laboratories except some problems in karyotype nomenclature and the detection of complex cytogenetic abnormalities in hematologic neoplasias. The molecular genetics surveys included many kinds of tests: M. tuberculosis detection, hepatitis B (HBV) and C virus (HCV) detection and quantification, human papilloma virus (HPV) genotyping, gene rearrangement tests for leukemias and lymphomas, apolipoprotein E (APOE) genotyping, methylenetetrahydrofolate reductase (MTHFR) genotyping, hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), and genetic tests for hereditary conditions such as Duchenne muscular dystrophy (DMD), Huntington disease, spinocerebellar ataxia, spinal muscular atrophy, and Prader-Willi/Angelman syndrome. Molecular genetic surveys showed excellent results in most of participants. External quality assessment program for genetic analysis in 2007 was proved to be helpful in continuous education and evaluation of quality improvement.
Asunto(s)
Humanos , Apolipoproteínas , Mama , Aberraciones Cromosómicas , Citogenética , Reordenamiento Génico , Hepatitis B , Enfermedad de Huntington , Cariotipo , Corea (Geográfico) , Leucemia , Linfoma , Metilenotetrahidrofolato Reductasa (NADPH2) , Biología Molecular , Atrofia Muscular Espinal , Distrofia Muscular de Duchenne , Neoplasias Ováricas , Papiloma , Control de Calidad , Ataxias Espinocerebelosas , Tuberculosis , VirusRESUMEN
Diagnostic genetics subcommitee of KSQACP has performed two trials each for cytogenetic studies and molecular genetic studies in 2005. Cytogenetic surveys were performed by 37 laboratories and answered correctly in most laboratories. And the first trial with whole blood specimen from the patient with cytogenetic abnormality (mosaic Turner syndrome) was successfully done, which could evaluate the whole process for cytogenetic studies from cell culture, harvest and karyotyping.. The molecular genetic test surveys included many kinds of tests like M. tuberculosis, HBV, HCV, HPV, leukemias/lymphomas, ApoE genotyping, MTHFR genotyping, BRCA1 & BRCA2, Duchenne muscular dystrophy, and Huntington disease. Molecular genetic surveys showed excellent results in most of participants. External quality assessment program for genetic analysis in 2005 was proved to be helpful in continuous education and evaluation of quality improvement.