Best Practice Guidelines

*Disease Guidelines:*
Title	Copyright	Publication	Status
Prader Willi and Angelman syndromes Additional information	2008, CMGS / EMQN	CMGS e-publication	Approved
Von Willebrand disease	2008, CMGS/UKHCDO	CMGS e-publication	Approved
Haemochromatosis	2006	BMC Med Genet 2006 Nov 29;7:81	Approved
Fragile X syndrome	2005, CMGS	CMGS e-publication	Approved
Mitochondrial disease Newcastle referral form Oxford referral form	2008, CMGS	CMGS e-publication	Approved
Haemophilia A	2003, CMGS	CMGS e-publication	Approved
Haemophilia B	2003, CMGS	CMGS e-publication	Approved
Focus on cystic fibrosis, including the CMGS Cystic Fibrosis guidelines	2009	CMGS e-publication	Approved
FAP	2009	CMGS e-publication	Draft *
Feedback to Simon Ramsden (simon.ramsden@cmft.nhs.uk) by 18th Sept 2009. Additional Disease-specific information:*
Title	Copyright	Publication	Status
HNPCC - Immunohistochemical analysis interpretation	2008, UKNEQAS ICC & ISH	UKNEQAS	Approved
*General Guidelines:*
Title	Copyright	Publication	Form
Maternal cell contamination (MCC)	2007, CMGS	CMGS e-publication	Approved
Unclassified variants, (Web Resources, Evaluation Form 1, Form 2)	2007, CMGS	CMGS e-publication	Approved
QFPCR	2007, CMGS/ACC	CMGS e-publication	Approved
Internal Quality	2004, CMGS	CMGS e-publication	Approved
Internal Quality - EMQN	2002, EMQN	EMQN e-publication	Approved
DHPLC	2004, CMGS	CMGS e-publication	Approved
Sequencing	2009, CMGS	CMGS e-publication	Approved
*Retired Standards and Guidelines - If you require copies of retired documents, please contact Simon Ramsden (simon.ramsden@cmmc.nhs.uk).*
Title	Copyright	Date Retired
QF-PCR	2004, CMGS/ACC	01/12/2007
HNPCC	2002, CMGS	01/12/2007
Sequencing	2001, CMGS	01/12/2007
Familial adenomatous polyposis	2000, CMGS	01/12/2007
Huntington disease	1998, CMGS	01/12/2007
Familial breast & ovarian cancer (BRCA1 & BRCA2)	1998, CMGS	01/12/2007
Myotonic dystrophy	1998, CMGS	01/12/2007
Spinocerebellar ataxias	1998, CMGS	01/12/2007
Reporting guidelines	1997, CMGS	01/12/2007
Duchenne and Becker muscular dystrophies	1993, CMGS	01/12/2007

Other Useful Links:

UK National Screening Committee guidelines for screening of neonates

For other European guidelines see Eurogentest