Best Practice Guidelines for Molecular Genetic Testing

Disease-specific guidelines

Disease	Current	Author	Withdrawn	Institution	Comments	Language
Charcot-Marie-Tooth disease	2009	Rautenstraß B., Nelis E.	2000	GfH / BVDH		German
		Rautenstraß B., Nelis E.	2004	AWMF		German
Cystic Fibrosis		Amos J., Feldman G., Wayne W.	2002,2006	ACMG		English
	2009	Stuhrmann-Spangenberg M., Aulehla-Scholz C., Dworniczak B., Reiss, J.	2006	AWMF		German
	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.		CMGS		English
Cystic Fibrosis Carrier Screening	2001	Grody Wayne W., Cutting Garry R., Klinger K.		ACMG		English
Duchenne and Becker muscular dystrophies	2010	Abbs S., Tuffery-Giraud S., Bakker E., Ferlini A., Sejersen T., Mueller C.R.				English
Faktor V Leiden	2006	Spector E., Grody W., Matteson C.	2004	ACMG		English
FAP	2009	Macdonald F.,Payne SJ.		CMGS		English
FAP & MAP	2011	Macdonald F.,Payne SJ.		CMGS		English
Fragile X Syndrome	2006	Biancalana V., Steinbach P., Stenhouse S.	2001	EMQN		English
	2005	Macpherson J., Sawyer H.		CMGS		English
	2006	Spector E., Kronquist K.	2000	ACMG		English
	2009	Steinbach P., Gläser D.	1998, 2004	GfH / BVDH		German
	2009	Steinbach P., Gläser D.	2004	AWMF		German
Friedreich Ataxia	2000	Ryan F.		EMQN		English
Haemoglobinopathies	2002	Traeger-Synodinos J., Old J.M., Petrou M.		EMQN		English
Haemophilia A	2011	Keeney S., Mitchell M., Goodeve A.	2003, 2007	CMGS		English
Haemophilia B	2011	Mitchell M., Keeney S., Goodeve A.	2003, 2007	CMGS		English
Haemochromatosis	2006	King C., Barton D.		CMGS		English
	2008	Gabriel H., Stuhrmann-Spangenberg M.	1997, 2006	AWMF		German
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 Motor and Sensory Neuropathies	2006	Rautenstrauss B., Lupski J., Timmerman V.	2001	EMQN		English
Hereditary Nonpolyposis Colorectal Cancer	2008	Ball S., Charlton R., Frayling I.	2002	CMGS		English
Huntington Disease	2006	Potter N., Spector E., Prior T.		ACMG		English
	2011	Losekoot M., van Belzen M.J., Senec S., Peter Bauer P., A.R. Stenhouse S.A.R. and Barton D.E.		CMGS		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	CMGS		English
Myotonic Dystrophy	2010	E.-J. Kamsteeg, W. Kress, C. Catalli, J. M. Hertz, M. Witsch-Baumgartner, M. Buckley, B. G.M. van Engelen, M. Schwartz and H. Scheffer		EMQN		English
Muscular Dystrophy Duchenne/Becker Type	1999	Mueller-Reible C., Grimm T., Bettecken T., Dworniczak B., Steinbach P.		GfH / BVDH		German
		Mueller-Reible C., Grimm T., Bettecken T.	1999	AWMF	Archive	German
	2010	Abbs S, Tuffery-Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller C				English
Prader-Willi Syndrome/Angelman Syndrome	2008	Ramsden S., Clayton-Smith J., Birch R., Buiting K.	1998	CMGS	Draft	English
		Horsthemke B., Bartsch O., Bürger J.	2001	BVDH	Archive	German
	2010	Buiting K., Gläser D., Horsthemke B.		GfH / BVDH		German
		Horsthemke B., Bartsch O., Bürger J.	2001	AWMF	Archive	German
	2010	Buiting K., Gläser D., Horsthemke B.		AWMF
	2001	Cassidy, S.B. et al		ACMG		English
	2010	S. C Ramsden, J. Clayton-Smith, R. Birch and K. Buiting		EMQN		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
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.		CMGS		English
Y Chromosome Microdeletions	2004	Simoni M., Bakker E., Krausz C.		EMQN		English

Non disease-specific guidelines

Techniques	Current	Author	Withdrawn	Institution	Comments	Language
DHPLC	2004	Harvey J., Schollen E.		CMGS		English
DNA-sequencing	2009	Charlton R., Davis M., Ellard S.	2003	CMGS		English
HNPPC-Immunohistochemical analysis interpretation	2008			CMGS		English
Informed consent	2007		2003	SGMG		English
	2007		2003	SGMG		German
	2007		2003	SGMG		French
Internal Quality Control	2003					English
Internal Quality Control	2002	Patton S., Stenhouse S.		EMQN	Draft	English
	2007	Stenhouse S.	2003	CMGS		English
General guideline for clinical genetics laboratories	2006			ACMG		English
General guideline for human genetics	2011			GfH / BVDH		German
Genetic counselling			1996	BVDH	Archive	German
			1996	AWMF	Archive	German
Maternal Cell Contamination	2007	Allen S., Moutford R., Butler A., Mann K., Treacy B.		CMGS		English
MGT for ultra-rare disorders	2006	Maddalena A., Bale S., Das S.	2004	ACMG		English
QF-PCR	2011	Mann K., Ogilvie C., Donaghue C.	2005, 2007	CMGS		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.		CMGS		English
Unclassified Variants	2007	Bell J., Bodmer D., Sistermans E. and Ramsden S.C.		CMGS		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

Organisation of Molecular Genetic EQA Schemes

Draft best practice and template document

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List of institutions

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

Simon C Ramsden ¹ , Jill Clayton-Smith ² , Rachael Birch ³ and Karin Buiting

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