Primary immunodeficiency


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

Immunodeficiency panel

Request a test

When requesting this test please use the referral form provided and complete the required proforma. No testing will be carried out without a proforma.

Additional information

Next generation sequencing panel of 72 genes. For additional information please click on the link Download additional information >

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

Next generation sequencing panel screen 80 days, familial mutation testing 20 days

Disease / group

Next generation sequencing panel of 72 genes


Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

© 2011 Great Ormond Street Hospital for Children NHS Trust