Department of Immunology
Camelia Botnar Laboratories
Information for referrals from England
Supraregional Service for
Molecular Diagnosis of Primary
Immune Deficiencies
Departments of Immunology and Clinical Molecular Genetics
_
The service will consider referrals on all patients with suspected immune deficiencies. A wide range of assays
are available (see request form for core assays). Other assays are available on a case by case basis. We
may be able to provide details of other labs if the assay requested is not available at GOSH. Where possible
protein expression/function will be undertaken first, with genetic analysis following if protein results are
abnormal.
Charges
A number of assays are funded nationally and are available free of charge (primarily T cell immune
deficiencies). Prices vary with the assay, and are available from the laboratories (x8835 for protein and 020
7762 6888 for genetics). A charge may be made for handling samples that are not received in a timely
fashion or with insufficient blood. Invoices will be sent to the referring clinician unless otherwise indicated.
Mechanism of referral
All referrals must be discussed before samples are sent (preferably at least the day before). As these are
specialized assays, we may be unable to process unexpected samples.
Please contact one of the following
Dr Kimberly Gilmour
Clinical Scientist
Dr Cathy Cale
Consultant Immunopathologist
If unavailable, please contact:
Dr Bobby Gaspar
Professor/Consultant
020 7813 8466 gilmok@gosh.nhs.uk
020 7829 7820 calec@gosh.nhs.uk
020 7905 2319 h.gaspar@ich.ucl.ac.uk
Sending samples
 Confirm day that sample will be arriving with immunology lab (020 7829 8835)
 Sample volumes on request form are minimum requirements. Smaller volumes can not be
processed.
 All samples must be accompanied by a control sample taken at the same time and transported with the
patient sample. Samples not accompanied by a control can not be processed.
 Control samples do not need to be age matched and may be a parent or unrelated adult. Please
indicate if parent or unrelated adult on control sample. DNA will be stored on labeled parental samples
used as controls unless you indicate otherwise on the request form.
 Full clinical details must be supplied on the attached form. If insufficient details are given, sample
processing will be delayed until further information has been obtained.
 Blood samples must be transported at room temperature and arrive within 24 hours of being taken.
 Please ensure that airfreight samples are sent in the temperature controlled, pressurized hold to
ensure they do not freeze
 We are a member of the Hayes DX system:
Member name
Great Ormond Street Hospital (IMMUNOLOGY)
DX Number
DX6640202
Exchange name
Bloomsbury 91WC
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Department of Immunology
Camelia Botnar Laboratories
Address for samples:
Immunology Department,
Level 4 Camelia Botnar Laboratories
Great Ormond Street Hospital for Children NHS Trust
Great Ormond Street
London WC1N 3JH
UK
Phone 020 7829 8835
Fax
020 7813 8268
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