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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
F2
HLA-A
CE
(Transplantation)
Haemophilia A
08/160
Haemophilia
F8
Fragile X syndrome
08/158
FMR-1
Prader Willi & Angelman syndromes
09/140
Prader Willi &
Angelman syndromes
15q11-13
15q11-13/UBE3A
BCR/ABL fusion gene quantitation
09/138
Chronic Myeloid Leukemia
t(9;22)(q34;q11)
RhD/SRY plasma DNA sensitivity standard
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:
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