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Genetic Reference Materials

We are conducting a survey to assess the needs of our customers and increase awareness of our genetic reference materials. It will only take a couple of minutes your time and we appreciate your response.  You will find the link to take part below. Thank you for your contributions.

 

NIBSC Genetic Reference Material Survey 2011 Survey

 

 

 

Click on image to download the PDF of the genetic reference materials flyer (370Kb)

 

NIBSC produce reference materials for nucleic acid based diagnostics where there is strong evidence of need. These materials may be produced as either World Health Organization (WHO) International Standards or as CE-marked in vitro diagnostic materials.

 

Reference materials for human genetic diagnostic tests are important in aiding test accuracy. This is of particular significance as the conditions being screened for are usually of major clinical impact. In the last 5 years we have produced several panels of reference materials for human genetic diagnostics in the form of genomic DNA extracted from patient-derived cell lines. These DNA samples are freeze-dried in glass ampoules for long term stability.

 

These products, established by the World Health Organization (WHO), are considered ‘Higher Order’ materials and are suitable for in vitro diagnostic use. They are not intended as routine ‘run-controls’, but as materials to occasionally test reagents, equipment and staff, as well as to act as calibrants for in-house local controls. They may be requested by any diagnostics laboratory worldwide and are supplied on a not-for-profit basis. WHO panels are currently priced at £127 each.

 

The Table below lists the products currently available. For more information on these products and panels in development click on the links on the left of this page. To order now, click on the item of interest in the Table. For more information on the HLA-A panel, see Section HLA-A.

 

Product

NIBSC Order Code

Certification

Disorder

Gene/Region

Factor V Leiden

04/224

WHO

Thrombosis

F5

Prothrombin

05/130

WHO

Thrombosis

F2

HLA-A

05/208-001

CE

(Transplantation)

HLA-A

Haemophilia A

08/160

WHO

Haemophilia

F8

Fragile X syndrome

08/158

WHO

Fragile X syndrome

FMR-1

Prader Willi & Angelman syndromes

09/140

WHO

Prader Willi &

Angelman syndromes

15q11-13

15q11-13/UBE3A

 

BCR/ABL fusion gene quantitation

09/138

WHO

Chronic Myeloid Leukemia

t(9;22)(q34;q11)

RhD/SRY plasma DNA sensitivity standard

 07/222  WHO Haemolytic Disease  of the Newborn  RHD

 

We are constantly seeking appropriately consented, ethically approved patient blood samples for cell line generation.  Please contact any of the team if you can help supply samples.

 

The team have close links with  the EuroGentest consortium, the UK National Genetic Reference Laboratories, the National Centre for Medical Genetics (Ireland), the NHS Blood and Transplant (NHSBT), Scottish National Blood Transfusion Service, and the World Health Organisation. We seek to develop additional relationships where possible.

 

The Genetic Reference Materials Team consists of the following groups:

 

 Dr Paul Metcalfe  paul.metcalfe@nibsc.hpa.org.uk  Tel:01707641250
 Dr Elaine Gray  elaine.gray@nibsc.hpa.org.uk  Tel:01707641319 
 Dr Ross Hawkins  ross.hawkins@nibsc.hpa.org.uk  Tel:01707641498   

 

 ampoules for GMCE Logo