Guidelines and documents
Latest Guidelines
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Clinical utility gene card: Angelman-Syndrome [UBE3A]
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Clinical utility gene card: Complete Androgen insensitivity (CAIS) [AR]
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Clinical utility gene card: Cranio-fronto-nasal syndrome (CFNS) [EFNB1]
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Clinical utility gene card: Myotonic dystrophy type 1 (DM1) [DMPK]
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Clinical utility gene card: Non-obstructive azoospermia, severe oligozoospermia [AZFa, AZFb, AZFc]
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Commission opinion on external samples for in-house assays
- Cytogenetic Guidelines and Quality Assurance
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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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Instrument for quality self-assessment in provision of genetic counselling
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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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Publication: Carrier testing in minors: a systematic review of guidelines and position papers
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Publication: Guidelines for molecular karyotyping in constitutional genetic diagnosis.
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Publication: Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers
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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: 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: Challenges of translating genetic tests into clinical and public health practice.
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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: Expertise, empathy and ethical awareness: ideals of genetic counseling based on framing of genetic information in international guidelines
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Publication: Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe
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Publication: Genetic research on stored tissue samples from minors: a systematic review of the ethical literature.
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Publication: Genetic Screening in Europe
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Publication: Legal uncertainty in the area of genetic diagnostic testing
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Publication: Scope of definitions of genetic testing: evidence from a EuroGentest survey
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