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Molecular Haematology

The molecular haematology laboratory service provides genetic diagnosis for those families suffering from inherited conditions caused by mutation of specific single genes. Testing is performed using a variety of DNA analysis techniques to identify causative mutations or to track defective genes through families.

Technical staff are available to answer questions relating to local test repertoire:

Sample requirements

For local analysis, blood samples should be collected into EDTA or citrate tubes (2-5ml). *For Factor V Leiden DNA analysis an additional citrated sample is required for activated protein C resistance (APC-r) testing. Please note: We cannot accept heparinised samples for molecular genetic analysis.

The specimen container must be labelled with full name (forename and surname) and one other unique identifier (date of birth, unit No., NHS No.) for acceptance in-line with RUH Pathology Acceptance & Rejection policy.

Samples should be sent directly to the laboratory. If necessary samples may be refrigerated at 4oC for up to 7 days without affecting quality.

It is assumed that when a sample is sent to the laboratory, the clinician responsible for the care of the patient has obtained appropriate and valid consent for testing and storage so that the laboratory is not required to confirm and document such consent. However, samples referred to external centres may require appropriate consent documentation.

Where specific genetic tests are not available locally, samples maybe forwarded to other appropriate UKAS accredited centres (e.g. molecular oncology/cytogenetics to Bristol Haemato-Oncology Diagnostic Centre).

Please refer to Blood Test Information.

The laboratory is open between 9.00am 5:15pm, Monday to Friday. There is no out of hours molecular service. During routine hours please contact haematology department: 01225 824728


Clinical advice

Dr Sarah Wexler
(Consultant Haematologist)
 
01225 824731
Dr Jo Crowe
(Consultant Haematologist)
 
01225 821799
Dr Chris Knechtli
(Consultant Haematologist)
 
01225 824733
Dr Sally Moore
(Consultant Haematologist)
 
01225 824760
Dr Jenny Page
(Consultant Haematologist)
 
01225 821442



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