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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form