Best Practice Guidelines for Molecular Genetic Testing

Disease-specific guidelines

Untitled Document
Disease Current
Author Withdrawn
Institution Comments Language
Charcot-Marie-Tooth disease 2009 Rautenstraß B., Nelis E. 2000 GfH / BVDH
German
Hereditary Motor and Sensory Neuropathies 2006 Rautenstrauss B., Lupski J., Timmerman V. 2001 EMQN
English
        EMQN In draft  
Cystic Fibrosis 2009 Stuhrmann-Spangenberg M., Aulehla-Scholz C., Dworniczak B., Reiss, J.
1997
GfH / BVDH
German

2008 Dequeker E., Manfred Stuhrmann, Michael A Morris 2000 CF Network
English

2009 Schwarz M., Gardner A., Jenkins L., Norbury G., Renwick P., Robinson D.
ACGS
English
Cystic Fibrosis Carrier Screening 2010 Castilani et al. 2010   EU consensus   English
Duchenne and Becker muscular dystrophies 2010 Abbs S., Tuffery-Giraud S., Bakker E., Ferlini A., Sejersen T., Mueller C.R.


English
        New guidelines in drafting    
Factor V Leiden 2006 Spector E., Grody W., Matteson C. 2004 ACMG
English
  2013 De Stafano    
English
FAP 2011 Macdonald F.   ACGS   English
FAP & MAP 2011 Macdonald F.,Payne SJ.
CMGS
English
Fragile X Syndrome 2015 Biancalana V., Glaeser D., McQuaid S., Stenhouse S.   EMQN
English

2014 Macpherson J., Sawyer H.
CMGS
English

2009
Steinbach P., Gläser D. 1998, 2004 GfH / BVDH
German
Friedreich Ataxia 2000 Ryan F.
EMQN
English
Haemoglobinopathies 2014 Traeger-Synodinos J., Old J.M., Petrou M.
EMQN
English
Haemophilia A 2011 Keeney S., Mitchell M., Goodeve A. 2003, 2007 ACGS
English
Haemophilia B 2011 Mitchell M., Keeney S., Goodeve A. 2003, 2007 ACGS
English
Haemochromatosis 2015 Keenie 2015
CMGS
English
Hereditary Breast and Ovarian Cancer 2008 Larsson, N., Borg, Å., Hodgson, S., Sinilnikova, O., Loman, N., McDevitt, T., Müller-Reible, C., Kristoffersson, U.
EMQN
English
Hereditary recurrent fevers 2012 Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I EMQN English
Huntington Disease 2006 Potter N., Spector E., Prior T.
ACMG
English
2013 Losekoot M., van Belzen M.J., Seneca S., Peter Bauer P., A.R. Stenhouse S.A.R. and Barton D.E. EMQN English
Maturity Onset Diabetes of the Young (MODY) 2007 Ellard S., Bellane-Chantelot, C., Hattersley A.T.
EMQN
English
Mitochondrial DNA disease 2008 Sellar A., Taylor R. 2004 ACGS
English
Myotonic Dystrophy 2012

Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M, Scheffer H


EMQN
English
Muscular Dystrophy Duchenne/Becker Type 2010 Abbs S, Tuffery-Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller C
  New version coming!
English
Osteogenesis imperfecta 2011 Van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA and Pals G 2011 EMQN English
Prader-Willi Syndrome/Angelman Syndrome 2010 Buiting K., Gläser D., Horsthemke B.

GfH / BVDH
German

2010 Simon C Ramsden, Jill Clayton-Smith, Rachael Birch and Karin Buiting
ACGS
English
Retinoblastoma 2002 Lohmann D., Scheffer H., Gaille B.
EMQN
English
Spinal Muscular Atrophy 2001 Scheffer H., Cobben J.M., Matthijs G., Wirth B.
EMQN
English
  2011 Prior et al.
ACMG
English
Spinocerebellar Ataxias 2010 Jorge Sequeiros, Joanne Martindale and Sara Seneca
EMQN
English
Von Willebrand Disease 2008 Keeney S., Bowen D., Cumming A., Enayat S., Goodeve A., Hill M.
ACGS
English
Y Chromosome Microdeletions 2013 C Krausz, L Hoefsloot, M Simoni and F Tüttelmann
EMQN
English

Non disease-specific guidelines

Techniques
Current
Author Withdrawn Institution Comments Language
DNA-sequencing 2009 Charlton R., Davis M., Ellard S. 2003 ACGS
English
HNPPC-Immunohistochemical analysis interpretation 2008

ACGS
English
Internal Quality Control 2002 Patton S., Stenhouse S.
EMQN Draft English

2007 Stenhouse S. 2003 ACGS
English
General guideline for clinical genetics laboratories 2006

ACMG
English
General guideline for human genetics 2011

GfH / BVDH
German
Maternal Cell Contamination 2007 Allen S., Moutford R., Butler A., Mann K., Treacy B.
ACGS
English
MGT for ultra-rare disorders 2006 Maddalena A., Bale S., Das S. 2004 ACMG
English
Microarray Guidelines 2012 Vermeesch JR, Brady PD, Sanlaville D, Kok K, Hastings RJ English
QF-PCR 2011 Mann K., Ogilvie C., Donaghue C. 2005, 2007 ACGS
English
QF-PCR for the diagnosis of aneuploidy best practice guidelines 2012 Association for Clinical Genetic Science ACGS
English
Reporting 2003 Morris, M.
SGMG
English

2011 Treacy JL and Robinson DO
CMGS
English
Sequencing 2011 Ellard S., Charlton R., Yau M. , Gokhale D., Taylor G.R., Wallace A. and Ramsden S.C.
ACGS
English
Unclassified Variants 2015 Wallis   ACGS  

English

Validation and verification of clinical molecular genetic tests 2010 Mattocks CJ., Morris MA., Matthijs G., Swinnen E., Corveleyn A., Dequeker E., Mueller CR., Pratt V. and Wallace A., for the EuroGentest Validation Group


English

Clinical guidelines

Clinical guidelines

Techniques
Current
Author Withdrawn Institution Comments Language
Informed consent 2007
2003 SGMG
English

2007
2003 SGMG
German

2007
2003 SGMG
French
Genetic counselling

1996 BVDH Archive
German



1996 AWMF Archive German



  EuroGentest   English

Organisation of Molecular Genetic EQA Schemes

Draft best practice and template document

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List of institutions

ACGS

Association for Clinical Genetic Science (a merger of the Association for Clinical Cytogenetics and the Clinical Molecular Genetics Society from December 2012)

ACMG

American College of Medical Genetics

AWMF

Association of the Scientific Medical Societies in Germany

BVDH

Professional Association of German Human Geneticists

CF Network

Cystic Fibrosis European Network

CMGS

Clinical Molecular Genetics Society

EMQN

The European Molecular Genetics Quality Network

GfH

The German Society of Human Genetics

SGMG

Swiss Society of Medical Genetics

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