Best Practice Guidelines

Archived Guidelines

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

Title

Copyright

Date Retired

Breast & ovarian cancer - familial(BRCA1 & BRCA2)

1998, CMGS

01/12/2007

DHPLC Guidelines

 

02/10/2013

Duchenne and Becker muscular dystrophies

1993, CMGS

01/12/2007

Evaluation Form 1

 

02/10/2013

Evaluation Form 2

 

02/10/2013

Familial adenomatous polyposis

2000, CMGS

01/12/2007

FISH scoring in Oncology

2003, ACC

Unknown

Fragile X syndrome

2005, CMGS

27/11/2014

Haemochromatosis

2006, BMC Medical Genetics

25/05/2016

Haemophilia B

2003, CMGS

30/03/2011

HNPCC

2002, CMGS

01/12/2007

Huntington disease

1998, CMGS

01/12/2007

Internal Quality - EMQN document 2002 

 

02/10/2013

Internal Quality

2004, CMGS

01/10/2015

Myotonic dystrophy

1998, CMGS

01/12/2007

QF-PCR

2004, CMGS/ACC

01/12/2007

QF-PCR for the Diagnosis of Aneuploidy, V 3.01

2012

25/11/2018

Reporting guidelines

1997, CMGS

01/12/2007

Sequencing

2001, CMGS

01/12/2007

Spinocerebellar ataxias

1998, CMGS

01/12/2007

Targeted Next Generation Sequencing

2012, CMGS

09/05/2014

Targeted Next Generation Sequencing

2014, ACGS

19/01/2016

Unclassified Variants

 

05/11/2013

Web Resources

 

02/10/2013

Molecular Diagnosis of Mitochondrial Diseases. 

2008, CMGS 

November 2020

Variant Classification in Rare Disease

2020, ACGS

February 2024

Postnatal Cytogenetics

2007, ACC

September 2024

Prenatal Cytogenetics

2009, ACC

September 2024

Solid Tissue Cytogenetics

2010, ACC

September 2024