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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R15

Primary immunodeficiency or monogenic inflammatory bowel disease

Test Group

Immunology

Test code

R15.4

Test name

N/A

Target genes

Primary immunodeficiency (398)

Test scope

n/a

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Suspected primary immunodeficiency diagnosed by a consultant immunologist
Indications include patients with any of the eight International Union of Immunological Societies (IUIS) categories of primary immunodeficiency:
1. Combined immunodeficiency, with or without associated features and abnormal T cell numbers or function. This may include abnormal naïve T cells, TRECs, repertoire, proliferations (e.g. PHA), reversed Cd4/8 ratio or increased gamma delta T cells)
2. Predominantly antibody deficiencies with low or absent vaccine responses
3. Diseases of immune dysregulation including haemophagocytic lymphohistiocytosis (HLH)
4. Congenital defects of phagocyte number, function or both. This should be evidenced by low
phagocytic204 numbers and/or abnormal DHR/NBT/phagocytosis/L selectin shedding, Cd11a,b,c or CD18, or abnormal migration or adhesion
5. Defects in intrinsic and innate immunity
6. Autoinflammatory disorders
7. Complement deficiencies with abnormal complement function
8. Testing under these criteria would also include young children with inflammatory bowel disease, defined as: bloody diarrhoea, severe failure to thrive and severe intestinal inflammation with histology consistent with chronic inflammatory intestinal pathology, of onset under 6 years of age OR
Suspected monogenic IBD diagnosed by a consultant paediatric gastroenterologist, gastroenterologist or immunologist
1. Infantile onset IBD less then 2 years onset; very early onset IBD (<6years of onset) with severe course (requiring biologics or surgery) or relevant comorbidities and extraintestinal manifestations 2. Testing may occasionally be appropriate outside these criteria following discussion in a specialist MDT, (for example paediatric or young adult IBD with documented severity criteria e.g. relevant family history, comorbidities and extraintestinal manifestations such as infection susceptibility).

Commissioning group

Specialised

Overlapping idications

• R16 Severe combined immunodeficiency with adenosine deaminase deficiency test should be used in individuals with ADA deficiency • R234 Severe combined immunodeficiency with PNP deficiency test should be used in individuals with PNP deficiency • R235 Severe combined immunodeficiency with gamma chain deficiency test should be used in individuals with low or absent gamma chain or low or absent STAT5 pTyr to IL-2,7, and 15 • R17 Lymphoproliferative syndrome with low or absent SAP expression test should be used in individuals with absent SAP expression • R232 Lymphoproliferative syndrome with low or absent perforin expression test should be used in individuals with absent perforin expression • R18 Lymphoproliferative syndrome with low or absent XIAP expression test should be used in individuals with absent XIAP expression • R19 Autoimmune lymphoproliferative syndrome with defective apoptosis test should be used in individuals with defective Fas-mediated apoptosis, elevated alpha double negative T cells, elevated sFAS or elevated vitamin B12 • R233 Agammaglobulinaemia with low or absent BTK expression test should be used in individuals with absent BTK expression • R20 Wiskott-Aldrich syndrome test should be used in individuals with a likely diagnosis of WAS • R204 Amyloidosis with no identifiable cause test should be used in cases with confirmed amyloidosis

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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/

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