Clinical Indication ID & Name
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked
Test Group
Endocrinology
Specialties
Test code
R157.1
Test name
N/A
Target genes
FOXP3
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Males with type 1 diabetes mellitus in early infancy or childhood, AND ANY TWO of the features below, OR
Males with absent regulatory T cells, AND ONE of the features below:
• Hypothyroidism
• Severe enteropathy
• Eczema
• Autoimmune cytopenias
• One of the above 4 features plus a family history compatible with X-linked inheritance
Test code
R157.2
Test name
N/A
Target genes
Test scope
n/a
Test method/ technology
n/a
Optimal Family Structure
n/a
Eligibility Criteria
Males with type 1 diabetes mellitus in early infancy or childhood, AND ANY TWO of the features below, OR
Males with absent regulatory T cells, AND ONE of the features below:
• Hypothyroidism
• Severe enteropathy
• Eczema
• Autoimmune cytopenias
• One of the above 4 features plus a family history compatible with X-linked inheritance
Commissioning group
Specialised
Overlapping idications
n/a
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