Guidelines and documents
Latest Guidelines
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Best practice guideline: Cystic Fibrosis (2009)
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Best practice guideline: Cystic Fibrosis and CFTR-related disorders – updated European recommendations
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Best practice guideline: DNA sequencing
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Best practice guideline: FAP (2009)
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Best practice guideline: Maturity Onset Diabetes of the Young (MODY) 2007
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Commission opinion on external samples for in-house assays
- Cytogenetic Guidelines and Quality Assurance
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Gene Patents and Collaborative Licensing Models
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Guidance document on the use of reference materials in Genetic Testing
- Guidelines and standards related to Quality Management
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IVD Directive
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IVD GUIDANCE : Research Use Only products
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IVD GUIDANCES : Borderline issues
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New German law on genetic testing translated into English
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Publication: Guidelines for molecular karyotyping in constitutional genetic diagnosis.
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Validation report: Multiplex Ligation-dependent Probe Amplification (MLPA)
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Spotlight Documents
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NEW
A standardized framework for the validation and verification of clinical molecular genetic tests
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BOOK
Quality Issues in Clinical Genetic Services
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NEW
Scope of definitions of genetic testing: evidence from a EuroGentest survey
- NEW Instrument for internal assessment of the quality of genetic counselling within a genetic counselling clinic
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Validation report: Multiplex Ligation-dependent Probe Amplification (MLPA)
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Technology Assessment Report: Automated DNA extraction
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Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.
- Core competences in genetics for health professionals in Europe
- Patient Leaflets
- UPD Clinical utility gene cards
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Interesting Links
Scientific Publications and Articles
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Best practice guideline: Cystic Fibrosis and CFTR-related disorders – updated European recommendations
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Best Practice Guideline: Duchenne/Becker muscular dystrophies
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Best practice guideline: SCA
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Book: Quality Issues in Clinical Genetic Services
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Guideline: A standardized framework for the validation and verification of clinical molecular genetic tests
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Publication: Accreditation of the PGD laboratory
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Publication: A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype–phenotype correlations, relevance for newborn screening and genetic testing
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Publication: A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
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Publication: Benchmarks for Cystic Fibrosis carrier screening: A European consensus document
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Publication: Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene
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Publication: European external quality control study on the competence of laboratories to recognize rare sequence variants resulting in unusual genotyping results.
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Publication: Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene
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Publication: Legal uncertainty in the area of genetic diagnostic testing
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Publication: Patenting and licensing in genetic testing: ethical, legal and social issues
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Publication: Qualitative urinary organic acid analysis: methodological approaches and performance
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Publication: Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.
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