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Focus on Cystic Fibrosis
Best Practice Guidelines

Editor of guidelines is Yvonne Wallis. Please contact Yvonne by email if you have any enquiries (click here for email).

 

Disease Guidelines:

Title

Copyright

Publication

Status

Cystic Fibrosis 2009 CMGS e-publication Approved
Duchenne and Becker muscular dystrophies 2010 Neuromuscular disorders Endorsed by CMGS
FAP & MAP 2011 CMGS e-publication Approved

Fragile X syndrome

2005, CMGS  

CMGS e-publication

Approved

Haemochromatosis

2006

BMC Med Genet 2006 Nov 29;7:81  

Approved  

Haemophilia A

2011, CMGS

CMGS e-publication

Approved

Haemophilia B

2011, CMGS

CMGS e-publication

Approved

Mitochondrial disease

   Newcastle referral form

   Oxford referral form

2008, CMGS

CMGS e-publication

Approved

Huntington disease 2012 EMQN e-publication Approved

Prader-Willi and Angelman syndromes

2010

BMC Med Genet

Approved

Von Willebrand disease

2008, CMGS/UKHCDO

CMGS e-publication

Approved

 

 

Additional Disease-specific information:

Title

Copyright

Publication

Status

HNPCC - Immunohistochemical analysis interpretation

2008, UKNEQAS ICC & ISH

UKNEQAS

Approved

 

 

General Guidelines:

Title

Copyright

Publication

Form

DHPLC

2004, CMGS

CMGS e-publication

Approved

Internal Quality 

2004, CMGS  

CMGS e-publication  

Approved 

Internal Quality - EMQN

2002, EMQN

EMQN e-publication

Approved

Maternal cell contamination (MCC)

2007, CMGS

CMGS e-publication

Approved

Next Generation Sequencing 2012, CMGS CMGS e-publication Approved

QFPCR

2012, CMGS/ACC

CMGS e-publication

Approved

Reporting

2011, CMGS

CMGS e-publication

Approved

Sequencing 2009, CMGS

CMGS e-publication

Approved

Unclassified variants, (Web Resources, Evaluation Form 1, Form 2)

2007, CMGS

 

CMGS e-publication

 

Approved

 

 

Retired Standards and Guidelines - If you require copies of  retired documents, please contact Yvonne Wallis .

.

Title

Copyright

Date Retired

Breast & ovarian cancer - familial(BRCA1 & BRCA2)

1998, CMGS

01/12/2007

Duchenne and Becker muscular dystrophies

1993, CMGS

01/12/2007

Familial adenomatous polyposis

2000, CMGS

01/12/2007

Haemophilia B 2003, CMGS 30/03/2011

HNPCC

2002, CMGS

01/12/2007

Huntington disease

1998, CMGS

01/12/2007

Myotonic dystrophy

1998, CMGS

01/12/2007

QF-PCR

2004, CMGS/ACC

01/12/2007

Reporting guidelines

1997, CMGS

01/12/2007

Sequencing

2001, CMGS

01/12/2007

Spinocerebellar ataxias

1998, CMGS

01/12/2007

 

Other Useful Links:

UK National Screening Committee guidelines for screening of neonates

 

For other European guidelines see Eurogentest

 

Page last updated 22/01/2013 (VJS)