Cytogenetic Guidelines and Quality Assurance

EQA - EQA for Cytogenetic Testing - Cytogenetic Guidelines and QA

A common European framework for quality assessment for constitutional and acquired cytogenetic investigations.

E.C.A. Permanent Working Group for Cytogenetics and Society

Co-ordinators:

Franca Dagna Bricarelli Laboratory of Genetics, Galliera Hospital, Via A. Volta 6, 16128 Genova – Italy, Ph: +390105634371, Fax: +39 0105634381, E-mail: dagna@galliera.it	Ulf Kristoffersson Department of Clinical Genetics, University Hospital, SE-221 85 Lund – Sweden, Ph: + 46 46 17 33 63, Fax: + 46 46 13 10 61, E-mail: Ulf.Kristoffersson@klingen.lu.se
Ros J. Hastings UKNEQAS for Clinical Cytogenetics, Women's Centre, John Radcliffe Hospital, Oxford - OX3 9DU – UK, Ph: +44 1865 857644, Fax: +441865857632, Website: www.ccneqas.org.uk, E-mail: ros.hastings@orh.nhs.uk	Simona Cavani Laboratory of Genetics, Galliera Hospital, Via A. Volta 6, 16128 Genova – Italy, Ph: +390105634375, Fax: +390105634381, E-mail: s.cavani@galliera.it

With contributions from Philippos C. Patsalis, Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, P.O.B. 23462, 1683 Nicosia - Cyprus, Ph:+35722392695, Fax:+35722392795, e-mail:patsalis@cing.ac.cy

E.C.A. Cytogenetic Guidelines and Quality Assurance

GUIDELINES Version 1.1

1. INTRODUCTION
   1. BACKGROUND
   2. GENETIC COUNSELLING
2. STAFF
   1. DIRECTOR/MANAGER/LABORATORY SUPERVISOR
   2. DIAGNOSTIC WORK SUPERVISOR /SECTION HEAD
   3. TECHNICAL STAFF
   4. TRAINEE STAFF
   5. ANCILLARY STAFF
   6. ADMINISTRATIVE STAFF
   7. MEDICAL COLLABORATION
   8. SCIENTIFIC COLLABORATION
3. WORKLOAD RECOMMENDATIONS
4. LABORATORY PROCEDURES
   1. GENERAL
      1. REFERALS
      2. STANDARD OPERATIONAL PROCEDURES (SOPs)
   2. EQUIPMENT AND FACILITIES
      1. SAFETY CABINETS
      2. INCUBATORS
      3. IMAGE CAPTURE SYSTEMS
   3. TECHNICAL ASPECTS OF CYTOGENETICS
      1. CELL CULTURES
      2. BANDING
   4. ANALYSIS
      1. KARYOTYPING/CHROMOSOME ANALYSIS
      2. CHECKING
   5. INTRODUCTION OF NEW LABORATORY PROCEDURES
      1. USE OF MOLECULAR TECHNIQUES
5. SPECIFIC CHROMOSOMAL ANALYSIS
   1. PRENATAL
      1. AMINOCYTE CULTURES
      2. CHORIONIC VILLI CULTURES
      3. FOETAL BLOOD CULTURES
      4. MOSAICISM IN PRENATAL STUDIES
   2. POSTNATAL
      1. POSTNATAL CHROMOSOME ANALYSIS OF BLOOD AND SOLID TISSUE/PRODUCTS OF CONCEPTION
      2. MOSAICISM
      3. PRODUCTS OF CONCEPTION/FOLLOW UP SPECIMEN
      4. CHROMOSOME INSTABILITY SYNDROMES
      5. OTHER RARE SYNDROMES DETECTED BY CYTOGENETIC ANALYSIS
   3. ONCOLOGY: LEUKAEMIAS AND SOLID TUMOURS
      1. BONE MARROW
      2. SOLID TUMOUR
      3. HAEMATOLOGICAL CHROMOSOME ANALYSIS
      4. ONCOLOGY CHROMOSOME ANALYSIS
   4. CGH AND MICROARRAY TECHNOLOGY
6. FLUORESCENCE IN-SITU HYBRIDISATION (FISH)
   1. GENERAL
   2. EQUIPMENT, FACILITIES AND SAFETY
   3. REAGENTS
   4. TECHNIQUES
      1. WHOLE CHROMOSOME PAINTING
      2. DETECTION OF MICRODELETION AND SUBTELOMERIC REGION ANALYSIS
      3. INTERPHASE FISH
   5. ANALYSIS
      1. CONSTITUTIONAL
      2. HEAMATOLOGY AND ONCOLOGY
   6. CHECKING
7. QF-PCR FOR RAPID PRENATAL DIAGNOSIS OF ANEUPLOIDY
   1. EQUIPMENT, FACILITIES AND SAFETY
   2. SAMPLE PREPARATION
   3. ANALYSIS
   4. REPORTING
8. REPORTING
   1. STANDARDISATION
      1. SUBSTANDARD ANALYSIS
      2. CHROMOSOMAL VARIANTS
      3. MOSAICISM AND PSEUDOMOSAICISM
      4. MATERNAL CONTAMINATION
      5. FISH REPORTS
9. SUCCESS RATES
10. REPORTING TIME
    1. PROVISIONAL RESULTS
11. CLINICAL RECORDS AND STORAGE
    1. RECORDS
       1. RETENTION OF DOCUMENTATION
    2. SPECIMEN STORAGE
       1. STORAGE TIMES

QUALITY ASSURANCE

1. GENERAL
2. ACCREDITATION
   1. ACCREDITATION
   2. CERTIFICATION
3. LABORATORY ORGANISATION AND MANAGEMENT
4. QUALITY MANUAL
5. DATA PROTECTION AND CONFIDENTIALITY
6. DOCUMENT CONTROL OF PROCEDURES AND PROTOCOLS
7. HEALTH AND SAFETY (H & S)
8. EQUIPMENT, INFORMATION SYSTEMS AND MATERIALS
   1. EQUIPMENT
   2. INFORMATION SYSTEMS (IT)
   3. MATERIALS
9. LAB STAFF EDUCATION AND TRAINING
10. PRE-EXAMINATION PROCESS - SPECIMEN RECEIPT
11. EXAMINATION PROCESS – ANALYSIS
12. POST-EXAMINIATION PROCESS – CHECKING AND AUTHORISATION
13. INTERNAL AND EXTERNAL QUALITY ASSURANCE (IQA & EQA)
    1. INTERNAL QUALITY ASSESSMENT (IQA)
    2. EXTERNAL QUALITY (EQA)

ACKNOWLEDGEMENTS

APPENDIX

1. INDICATIONS FOR CYTOGENETIC ANALYSIS
2. REFERENCES
3. NATIONAL GUIDELINES
4. INTERNATIONAL/EUROPEAN STANDARDS

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Last changed: 2008-09-11