Best Practice Guidelines for Molecular Genetic Testing

Disease-specific guidelines

Disease	Date	Updated	Institution	Author	Comments	Language
Charcot-Marie-Tooth disease	2000		BVDH	Rautenstrauß B., Lupski J., Timmerman V.		German
	1997	2004	AWMF	Rautenstraß B., Nelis E.		German
Cystic Fibrosis	2002	2006	ACMG	Amos J., Feldman G., Wayne W.		English
	1997	2006	AWMF	Stuhrmann-Spangenberg M., Aulehla-Scholz C.		German
	1997		BVDH	Stuhrmann-Spangenberg M., Aulehla-Scholz C.		German
	2000	2008	CF Network	Dequeker E., Manfred Stuhrmann, Michael A Morris		English
	2009		CMGS	Schwarz M., Gardner A., Jenkins L., Norbury G., Renwick P., Robinson D.		English
Cystic Fibrosis Carrier Screening	2001		ACMG	Grody Wayne W., Cutting Garry R., Klinger K.		English
Faktor V Leiden	2004	2006	ACMG	Spector E., Grody W., Matteson C.		English
FAP	2009		CMGS	Macdonald F.,Payne SJ.		English
Fragile X Syndrome	2001	2006	EMQN	Biancalana V., Steinbach P., Stenhouse S.		English
	2005		CMGS	Macpherson J., Sawyer H.		English
	2000	2006	ACMG	Spector E., Kronquist K.		English
	1998	2004	BVDH	Steinbach P., Gläser D.		German
	2004		AWMF	Steinbach P., Gläser D.	Archive	German
Friedreich Ataxia	2000		EMQN	Ryan F.		English
Haemoglobinopathies	2002		EMQN	Traeger-Synodinos J., Old J.M., Petrou M.		English
Haemophilia A	2003	2007	CMGS	Keeney S., Mitchell M., Goodeve A.		English
Haemophilia B	2003	2007	CMGS	Mitchell M., Keeney S., Goodeve A.		English
Haemochromatosis	2006		CMGS	King C., Barton D.		English
	1997	2006	AWMF	Gabriel H., Stuhrmann-Spangenberg M.		German
Hereditary Breast and Ovarian Cancer	2008		EMQN	Larsson, N., Borg, Å., Hodgson, S., Sinilnikova, O., Loman, N., McDevitt, T., Müller-Reible, C., Kristoffersson, U.		English
Hereditary Motor and Sensory Neuropathies	2001	2006	EMQN	Rautenstrauss B., Lupski J., Timmerman V.		English
Hereditary Nonpolyposis Colorectal Cancer	2002	2008	CMGS	Ball S., Charlton R., Frayling I.		English
Huntington Disease	2006		ACMG	Potter N., Spector E., Prior T.		English
Maturity Onset Diabetes of the Young (MODY)	2007		EMQN	Ellard S., Bellane-Chantelot, C., Hattersley A.T.		English
Mitochondrial DNA disease	2004	2008	CMGS	Sellar A., Taylor R.		English
Muscular Dystrophy Duchenne/Becker Type	1999		BVDH	Mueller-Reible C., Grimm T., Bettecken T.		German
	1999	2010	AWMF	Mueller-Reible C., Grimm T., Bettecken T.	Archive	German
	2010			Abbs S, Tuffery-Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller C		English
Prader-Willi Syndrome/Angelman Syndrome	1998	2008	CMGS	Ramsden S., Clayton-Smith J., Birch R., Buiting K.	Draft	English
	2001		BVDH	Horsthemke B., Bartsch O., Bürger J.		German
	2001		AWMF	Horsthemke B., Bartsch O., Bürger J.	Archive	German
	2001		ACMG	Cassidy, S.B. et al		English
Retinoblastoma	2002		EMQN	Lohmann D., Scheffer H., Gaille B.		English
Spinal Muscular Atrophy	2001		EMQN	Scheffer H., Cobben J.M., Matthijs G., Wirth B.		English
Von Willebrand Disease	2008		CMGS	Keeney S., Bowen D., Cumming A., Enayat S., Goodeve A., Hill M.		English
Y Chromosome Microdeletions	2004		EMQN	Simoni M., Bakker E., Krausz C.		English

Non disease-specific guidelines

Disease	Date	Updated	Institution	Author	Comments	Language
DHPLC	2004		CMGS	Harvey J., Schollen E.		English
DNA-sequencing	2003	2009		CMGS	Charlton R., Davis M., Ellard S.	English
Informed consent	2003	2007	SGMG			English
	2003	2007	SGMG			German
	2003	2007	SGMG			French
Internal Quality Control	2002		EMQN	Patton S., Stenhouse S.	Draft	English
	2003	2007	CMGS	Stenhouse S.		English
General guideline for clinical genetics laboratories	2006		ACMG			English
	1996		BVDH			German
	1996		AWMF		Archive	German
Genetic counselling	1996		BVDH			German
	1996		AWMF		Archive	German
Maternal Cell Contamination	2007		CMGS	Allen S., Moutford R., Butler A., Mann K., Treacy B.		English
MGT for ultra-rare disorders	2004	2006	ACMG	Maddalena A., Bale S., Das S.		English
QF-PCR	2005	2007	CMGS	Mann K., Ogilvie C., Donaghue C.		English
Reporting	2003		SGMG	Morris, M.		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

SGMG

Swiss Society of Medical Genetics

If your laboratory offers testing for SCA's, then we would greatly appreciate it if you could spend 10 minutes completing the form and email it back to lcorreia@ibmc.up.pt as soon as possible.