Clinical Indication ID & Name
Agammaglobulinaemia with absent BTK expression
Test Group
Immunology
Specialties
Test code
R233.1
Test name
N/A
Target genes
BTK
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features in males suggestive of X-linked agammaglobulinaemia with low or absent BTK expression OR males with absent B cells
Commissioning group
Specialised
Overlapping idications
• R15 Primary immunodeficiency panel test should be used where clinical and laboratory features are not typical and a broader range of genes are potentially causative
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old