The primary immunodeficiencies (PID) are a heterogeneous group of >150 disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders).
Also known as
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When requesting this test please use the referral form provided and complete the required proforma. No testing will be carried out without a proforma.
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Next generation sequencing panel of 72 genes. For additional information please click on the link
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Next generation sequencing panel screen 80 days, familial mutation testing 10 days
Disease / group
Next generation sequencing panel of 72 genes
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis