Disease Guidelines:

Title

Copyright

Publication

Status

Prader Willi and Angelman syndromes *New*

   Additional information

2008, CMGS / EMQN

CMGS e-publication

Approved

Von Willebrand disease *New *

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 *New *

   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

Cystic Fibrosis - updated European CF guidelines are now available. These are
published in the European Journal of Human Genetics - link to the abstract.

CMGS guidelines to be published soon.

2008

EJHG

Approved

Additional Disease-specific information:

Title

Copyright

Publication

Status

HNPCC - Immunohistochemical analysis interpretation *New*

2008, UKNEQAS ICC & ISH

UKNEQAS

Approved

General Guidelines:

Title

Copyright

Publication

Form

Maternal cell comination (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

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