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INTEGRATED PATHOLOGY SERVICE GENERAL PATHOLOGY DOCUMENT Immunology Test User Guide [PD-IMM-TestGuide] AUTHOR: Samantha Nelson APPROVED BY: Sue Tant DATE OF ISSUE: 16/08/20 DATE EFFECTIVE FROM: 16/08/20 VERSION NO: 2 REVIEW INTERVAL: Biennial COPY: 1 LOCATION OF COPIES: 1 Electronic – Q-Pulse 2 Electronic - Internet Page 1 of 64 Immunology Test User Guide [PD-IMM-TestGuide] – Version 2 Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021 Author(s): Samantha Nelson

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Page 1: St Richard's Hospital · Web viewmay also be associated with lung disease in the absence of clinically apparent myositis. Anti-Ro52 can be seen in Sjögren's syndrome, SLE, cutaneous

INTEGRATED PATHOLOGY SERVICEGENERAL PATHOLOGY DOCUMENT

Immunology Test User Guide [PD-IMM-TestGuide]

AUTHOR: Samantha NelsonAPPROVED BY: Sue TantDATE OF ISSUE: 16/08/20DATE EFFECTIVE FROM: 16/08/20VERSION NO: 2REVIEW INTERVAL: BiennialCOPY: 1LOCATION OF COPIES: 1 Electronic – Q-Pulse

2 Electronic - Internet

Page 1 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

Page 2: St Richard's Hospital · Web viewmay also be associated with lung disease in the absence of clinically apparent myositis. Anti-Ro52 can be seen in Sjögren's syndrome, SLE, cutaneous

Assay Anti-neutrophil cytoplasmic antibodies

Synonyms ANCASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working DaysTest indications ANCA may be perinuclear (P-ANCA) or

cytoplasmic (C-ANCA). These are found in small vessel vasculitis but also may be associated with other systemic inflammatory conditions or chronic infections. Antibodies to myeloperoxidase (MPO) and proteinase 3 (PR3) are used to determine the disease-specificities of the ANCA.

Reference intervals Reported as Positive p-ANCA; Positive c-ANCA or Negative

Interferences It may not be possible to identify ANCA if the patient has a positive ANA. In these samples MPO and PR3 will always be tested.

Page 2 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Anti-cardiolipin antibodiesSynonyms ACL, Cardiolipin, ACASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working DaysTest indications Associated with an increased risk of

arteriovenous thrombosis, recurrent foetal loss, and thrombocytopenia. Associated with a prolonged APTT and with the lupus anticoagulant.

Reference intervals IgG ACA: 0-10 GPL-U/mlIgM ACA: 0-10 MPL-U/ml

Interferences None knownComments It is recommended that positive results

are confirmed after 12 weeks

Page 3 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Adrenal antibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries:01865 225995

Turnaround time 14 daysTest indications Antibodies to adrenal cortex are present

in up to 70% patients with primary Addison's disease. They can also form part of the autoantibody spectrum seen in autoimmune polyendrocrinopathies.

Reference intervals Reported as Positive or NegativeInterferences All Positive results have a full

autoantibody screen carried out to rule out the presence of a mitochondrial antibody

Page 4 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Anti-AMPA1 AntibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries:01865 225995

Turnaround time 14 DaysTest indications Used for the diagnosis of treatable

autoimmune encephalitis.Reference intervals QualitativeInterferences N/A

Page 5 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Anti- AMPA2 AntibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 14 DaysTest indications Used for the diagnosis of treatable

autoimmune encephalitis.Reference intervals QualitativeInterferences N/A

Page 6 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Anti-nuclear antibodiesSynonyms ANA, ANF, Hep2Sample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications High titre levels are highly suggestive of

a systemic connective tissue disorder, but low levels are frequently found in old age and with any cause of chronic inflammation

Reference intervals Reported as Positive (with pattern) or Negative

Interferences N/AComments CTD screen has replaced ANA as the

first line screening test for connective tissue disease

Page 7 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Aquaporin AntibodiesSynonyms NMO; Aquaporin 4Sample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 14 DaysTest indications Aquaporin 4 (AQP4) is the major

autoantigen in neuromyelitis optica (NMO, or Devic's disease). Antibodies to AQP4 are found in >80% of NMO patients and around 50% of patients with longitudinally extensive transverse myelitis. They are infrequent in patients with optic neuritis without spinal cord involvement.

Reference intervals Reported as Positive or NegativeInterferences N/A

Page 8 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Autoimmune profileSynonyms AIPSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications This combined test will detect auto

antibodies to gastric parietal cells in autoimmune gastritis/pernicious anaemia and mitochondria, smooth muscle, liver-kidney microsomes in autoimmune liver disease.

Reference intervals Each antibody is reported as either positive or negative

Interferences The presence of mitochondrial antibodies may obscure any GPC staining present

Page 9 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Basal GangliaSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Neuroimmunology & CSF Laboratory

(NICL)The National Hospital for Neurology & Neurosurgery9th FloorQueens SquareLondonWC1N 3BG

Turnaround time 10 DaysTest indications ABGA have been associated with

movement disorders (usually tics and chorea) and psychiatric disturbance in children. It is hypothesised that dystonia in adults or adolescents may be part of the clinical spectrum of the post-infectious syndrome associated with ABGA.

Reference intervals Reported as Positive or NegativeInterferences N/A

Page 10 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Beta-2-Glycoprotein-1Synonyms B2GPSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications Beta-2-GP-1 is a phospholipid binding

protein and antibodies directed against this antigen are seen in patients suffering from the Anti-Phospholipid Syndrome (APS). This test is recommended in patients suspected of having APS in whom the lupus anticoagulant and anti-cardiolipin assays are negative.

Reference intervals Normal range IgG B2GP: 0-10 U/mLNormal range IgM B2GP: 0-10 U/mL

Interferences Rheumatoid factor (RF) can interfere with the determination of IgM anti-β2-Glycoprotein I antibodies

Page 11 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay C1q AntibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Department of Immunology, Sheffield

Immunology & protein reference unitPO Box 894SheffieldS5 7YT0114 2715552

Turnaround time 10 DaysTest indications Antibodies against the first component of

the classical pathway, C1q, are seen in some forms of systemic lupus erythematosus, and in hypocomplementaemic urticarial vasculitis. It is not generally useful in patients with normal C3, C4 levels.

Reference intervals Normal range <15 U/mLInterferences N/A

Page 12 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Caspr2 AntibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 14 DaysTest indications Suspicion of autoimmune encephalitis

and Morvans Syndrome. CASPR2 (Contactin Associated Protein 2) is a subunit of the potassium channel complex (VGKC) and is included in the group of extracellular antigens. Antibodies against CASPR2 may occur in neuromyotonia, autoimmune encephalitis and Morvan Syndrome.

Reference intervals Reported as Negative or PositiveInterferences N/AComments Caspr2 antibodies will be automatically

tested if the VGKC is positive

Page 13 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Cyclic Citrullinated Peptide Antibodies

Synonyms CCPSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications To help in the diagnosis of rheumatoid

arthritis (RA) and differentiate it from other types of arthritis; sometimes to help evaluate the prognosis of a patient with RA

Reference intervals Normal range 0-10 U/mLInterferences Grossly haemolysed, lipaemic or

microbially contaminated samples may give erroneous results.

Page 14 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Coeliac screenSynonyms TTGSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions Patients must be on a gluten containing

diet for 6 weeks prior to testing if the assay is being performed for the diagnosis of coeliac disease

Referral laboratory N/ATurnaround time 10 Working daysTest indications For the investigation and monitoring of

coeliac disease. Also seen in patients with dermatitis herpetiformis.

Reference intervals Normal range <10 U/mlInterferences Grossly haemolysed, lipaemic or

microbially contaminated samples may give erroneous results.

Comment In the first instance serum will be tested for IgA tissue transglutaminase antibodies. Follow up testing for serum IgA levels and IgA/G endomysial antibodies may be performed..

Page 15 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay DNA antibodiesSynonyms Double-stranded DNA antibodiesSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications Diagnosis and monitoring of SLE:

Positive anti-DNA antibodies are found in 70-90% of patients with SLE where levels show some correlation with disease activity. A negative test does not exclude the diagnosis. Also found in low levels in other systemic CTD.

Reference intervals Normal range <15 IU/mlInterferences Grossly haemolysed, lipaemic or

microbially contaminated samples may give erroneous results.

Comments CTD is used as the first line screening test for all connective tissue diseases. If positive it will be followed up with both DNA and ENA testing. DNA assay should only be requested when monitoring SLE activity.

Page 16 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay ENA ScreenSynonyms Extractable nuclear antigenSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications The ENA screen includes the following

antibodies: Anti SSA: Associated with

Sjogrens syndrome. SSA is found particularly in subacute cutaneous lupus but also in Sjorgens syndrome and SLE.

Anti-SSB: Associated with Sjorgens syndrome.

Anti-RNP: Found in 90% of those with MCTD

Anti Sm: Indicative of SLE when found alone.

Anti-Jo-1: Detected in polymyositis associated with interstitial lung disease.

Anti-Scl-70: Detected in scleroderma.

CENP: Associated with limited systemic scleroderma

If the ENA screen is positive the serum will be tested for each of the 7 antibodies individually

Reference intervals ENA screen: Normal range 0-1 ratioSSA: Normal range 1-10 U/mlSSB: Normal range 1-10U/mlSm: Normal range 1-10 U/mlRNP: Normal range 0-10 U/mlScl-70: Normal range 0-10 U/mlJo-1: Normal range 0-10 U/mlCENP: Normal range 0-10 U/ml

Interferences Grossly haemolysed, lipaemic or microbially contaminated samples may give erroneous results.

Comments CTD is used as the screening test for all connective tissue diseases. If positive it will be followed up with both the DNA and ENA screen assay.

Page 17 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Endomysial antibodiesSynonyms EMASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions Patients must be on a gluten containing

diet for 6 weeks prior to testing if the assay is being performed for the diagnosis of coeliac disease

Referral laboratory N/ATurnaround time 10 Working daysTest indications Found in >90% of patients with coeliac

disease especially if IgA isotype. Also 35% of patients with Dermatitis Herpetiformis. To assist in the diagnosis of coeliac disease

Reference intervals Reported as Positive or NegativeInterferences N/AComment In the first instance serum will be tested

for IgA tissue transglutaminase antibodies. Follow up testing for serum IgA levels and IgA/G endomysial antibodies may be performed.

Page 18 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay GABAbSynonyms N/ASample type/volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 14 DaysTest indications Used for the diagnosis of treatable

autoimmune encephalitis.Reference intervals Reported as Positive or NegativeInterferences N/A

Page 19 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Glutamic Acid Decarboxylase Antibodies

Synonyms GADSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Department of Immunology, Sheffield

Immunology & protein reference unitPO Box 894SheffieldS5 7YT0114 2715552

Turnaround time 5 DaysTest indications Antibodies to glutamic acid

decarboxylase (anti-GAD) are reliable serological markers of Insulin-dependent diabetes mellitus.Anti-GAD antibodies in high titre are associated with the stiff-person syndrome (60% sensitivity), a rare neurological disease characterised by muscle rigidity and spasms.

Reference intervals Normal range <5 U/mlInterferences N/A

Page 20 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Ganglioside AntibodiesSynonyms GM1 & GQ1bSample type/volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 21 DaysTest indications Anti-ganglioside antibodies are

associated with several immunologically mediated peripheral neuropathies e.g. anti-GM1 (IgM) with multifocal motor neuropathy, GQ1b (IgG) with the Miller-Fisher syndrome and GM1 (IgG) with the Guillain-Barre syndrome.Anti-ganglioside antibodies are often found at low titres in normal individuals.

Reference intervals GM1: Normal range <1/200 titreGQ1b:Normal range <1/50 titre

Interferences N/A

Page 21 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay GBM AntibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications Antibodies against GBM are seen in

Goodpasture’s syndrome, a pulmonary-renal form of vasculitis associated with rapidly progressing renal failure and haemoptysis. About 10% of patients with granulomatosis with polyangiitis may also have GBM antibodies.

Reference intervals Normal range 0-10 U/mLInterferences Grossly haemolysed, lipaemic or

microbially contaminated samples may give erroneous results.

Page 22 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Glycine Receptor AntibodiesSynonyms N/ASample type One 7ml SST (Gold top) tube per patient

or 0.5 ml CSFTest instructions Serum preferredReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 14 daysTest indications Suspected Stiff person syndrome and

especially PERM (Progressive encephalomyelitis with rigidity and myoclonus).

Reference intervals Reported as Positive or NegativeInterferences N/A

Page 23 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay GM1Ab; GQ1bSynonyms Ganglioside antibodiesSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 21 DaysTest indications Anti-ganglioside antibodies are

associated with several immunologically mediated peripheral neuropathies e.g. anti-GM1 (IgM) with multifocal motor neuropathy, GQ1b (IgG) with the Miller-Fisher syndrome and GM1 (IgG) with the Guillain-Barre syndrome.Anti-ganglioside antibodies are often found at low titres in normal individuals.

Reference intervals GM1: Normal range <1/200 titreGQ1b:Normal range <1/50 titre

Interferences N/A

Page 24 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay HistoneSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Department of Immunology, Sheffield

Immunology & protein reference unitPO Box 894SheffieldS5 7YT0114 2715552

Turnaround time 10 DaysTest indications Histone antibodies have been reported in

cases of drug-induced SLE. They are temporary and disappear within a few months after withdrawal of the inducing drug.

Reference intervals Normal range <40 U/mlInterferences N/A

Page 25 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay IA2 AntibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Department of Immunology, Sheffield

Immunology & protein reference unitPO Box 894SheffieldS5 7YT0114 2715552

Turnaround time 10 DaysTest indications Autoimmune Diabetes Mellitus.Reference intervals Normal range 0-10 IU/mlInterferences N/A

Page 26 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

Approved by–Sue Tant 16/08/20 Review Due : 16/08/2021Author(s): Samantha Nelson

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Assay Insulin AntibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Department of Immunology, Sheffield

Immunology & protein reference unitPO Box 894SheffieldS5 7YT0114 2715552

Turnaround time 5 DaysTest indications Predictor for type 1 diabetes. Insulin

resistance.Reference intervals < 5 mg/L Negative.

5-10 mg/L Equivocal.> 10 mg/L Positive

Interferences N/A

Page 27 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

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Assay Intrinsic factor antibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications Found in Pernicious anaemia; Request

with AIP for parietal cell abs in patients with low B12 levels

Reference intervals Normal range 0-10 U/mLInterferences Grossly haemolysed, lipaemic or

microbially contaminated samples may give erroneous results.

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Assay Islet cell antibodiesSynonyms N/ASample type/Volume N/ATest instructions Request GAD antibodies. This test is no

longer offered.Referral laboratory N/ATurnaround time N/ATest indications See GAD antibodies.Reference intervals N/AInterferences N/A

Page 29 of 47Immunology Test User Guide [PD-IMM-TestGuide] – Version 2

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Assay Liver blotSynonyms Extended liver panelSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Diagnostic Immunology and Allergy

King's College HospitalBessemer Wing - 1st FloorDenmark HillLondon SE5 9RS020 3299 1555

Turnaround time 6 DaysTest indications The extended liver blot includes the

following:AMA-M2: Has a prevalence of approximately 85-95% in PBC. It is also seen in 30-96% of overlap-syndrome cases.M2-3E: Occur with a prevalence of 90-95% in PBC cases. Also found in AIH patients with a prevalence of 4%.Sp100: Detected in PBC patients with a prevalence of 15-31%.PML: Associated with PBC (prevalence 13%) and AIH (prevalence 4%).Gp210: Detected with a prevalence of 26% in PBC and 4% in AIH.LKM-: Has a prevalence of around 70% in AIH Type 2.LC-1: Detected in approximately 10% of AIH Type 1 and 35% of AIH Type 2 patients.SLA/LP: Found in AIH patients with a prevalence of 15-30% (Europe, North America) and 7% (Japan).Ro-52: Has a prevalence of 5-19% in AIH. Not specific for autoimmune liver disease and can be found in sera from patients with myositis, SSc and other collagenoses.

Reference intervals Each antibody is reported as either Positive or Negative

Interferences N/A

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Assay Lgi1Synonyms N/ASample type One 7ml SST (Gold top) tube per patient,

CSF accepted but serum preferredTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 14 DaysTest indications LGI1 and CASPR2 are VGKC-complex

antibodies. Antibodies to LGI1 are frequent in limbic encephalitis with low plasma sodium and often associated with a particular seizure type called faciobrachia dystonic seizures. Antibodies to CASPR2 are found mostly in patients who have Morvans syndrome. They have also been found recently in some patients with cerebellar ataxia not necessarily with VKGC-complex precipitating antibodies.

Reference intervals Reported as Positive or NegativeInterferences N/A

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Assay M2Synonyms Mitochondrial antibodiesSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications M2 antibodies are a highly sensitive and

specific marker of Primary Biliary Cirrhosis, present in 95% of cases. Also found in a small percentage of patients with autoimmune chronic active hepatitis. M2 antibodies are directed against Pyruvate Dehydrogenase.

Reference intervals Normal range 0-6 IU/mlInterferences Grossly haemolysed, lipaemic or

microbially contaminated samples may give erroneous results.

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Assay Myelin Oligodendeocyte Glycoprotein Antibodies

Synonyms MOGSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 14 DaysTest indications Neuromyelitis optica patients negative for

NMO (Aquaporin 4) antibodies.Reported in some children with Acute disseminated encephalomyelitis (ADEM) or Multiple sclerosis (MS).

Reference intervals Reported as Positive or NegativeInterferences N/A

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Assay Muscle Specific Kinase AntibodiesSynonyms MUSKSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 21 DaysTest indications Muscle specific tyrosine kinase (MUSK)

is a surface membrane enzyme that is essential in aggregating Acetylcholine receptor during the development of the neuromuscular junction. Recent studies have shown that antibodies to Musk are present in 40% to 50% of patients with generalized Acetylcholine Receptor seronegative MG. Anti-Musk antibodies have not been found in patients with purely ocular myasthenia or in those with anti-acetylcholine receptor antibodies.

Reference intervals Reported as Positive or NegativeInterferences N/A

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Assay Myositis panelSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 14 DaysTest indications The myositis panel includes:

Mi-2 antibodies are typically found in patients with steroid responsive dermatomyositis. They are rare in polymyositis. Mi-2 antibodies are invariably of high titre and show no variation during the course of the disease or treatment.

Antibodies to PM-Scl75 and PM-Scl100 antigen are found in 50-70% of patients with the polymyositis/ scleroderma overlap syndrome. PM-Scl75 is seen in 8% of patients with myositis and 3% of patients with systemic sclerosis but 25% of patients with scleroderma/myositis overlap syndrome. PM-Scl100 is not as closely associated with systemic sclerosis as PM-Scl75.

Ku antibodies are seen in a variety of diseases including systemic lupus erythematosus, mixed connective tissue disease, scleroderma and the polymysitis/scleroderma overlap syndrome. They are also seen in patients with pulmonary hypertension.

Jo-1 antibodies are found in 20-40% of patients with aggressive polymyositis, usually in association with interstitial lung disease and arthralgia.

PL-7 and PL-12 are associated with polymyositis and dermatomyositis, they are also seen in anti-synthetase syndrome (ASS) recognized as a spectrum of myositis, interstitial pneumonia, non-erosive arthritis,

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fever and Raynaud’s phenomena. PL-12 may also be associated with

lung disease in the absence of clinically apparent myositis.

Anti-Ro52 can be seen in Sjögren's syndrome, SLE, cutaneous lupus erythematosus, neonatal lupus and primary biliary cirrhosis.

Signal recognition peptide (SRP) antibodies can be found in approximately 5% of polymyositis and dermatomyositis cases. They are also markers for necrotising myopathy which shows similar skin changes to dermatomyositis but has more acute symptoms including muscle pain/weakness and interstitial lung disease.

EJ (glycyl) and OJ (Isoleucyl) are markers for polymyositis and may be found in interstitial lung fibrosis, in overlap syndrome, arthritis and Raynaud’s syndrome . EJ may also be observed in SLE.

Reference intervals Each test reported as Positive or Negative

Interferences N/A

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Assay Neuronal AntibodiesSynonyms Paraneoplastic antibodies; Purkinje

antibodies; Hu, Yo, RiSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 14 DaysTest indications Anti-Hu: Type I anti-neuronal nuclear

antibody (ANNA-1) is associated with SCLC, resulting in paraneoplastic encephalomyelitis. Anti-Ri: Type II anti-neuronal nuclear antibody (ANNA-2) is associated with neuroblastoma (children) and fallopian or breast cancer (adults), resulting in paraneoplastic opsoclonus myoclonus ataxia (POMA). Anti-Yo: Anti-Purkinje cell antibody is associated with gynaecological tumours and breast cancer, resulting in PCD Anti-Tr: Anti-purkinje cell antibody is associated with Hodgkin's disease, resulting in cerebellar degeneration. Anti-Ma (Ma1): Anti-neuronal antibody is not associated with any specific tumour, and can lead to limbic or brain stem encephalomyelitis. Anti-Ta (Ma2): Anti-neuronal antibody is associated with testicular tumours, and can lead to limbic or brain stem encephalomyelitis. Amphiphysin: Associated with tumours of the breast or SCLC leading to opsoclonus, ataxia RMP/CV2: Associated with various tumours, including thymoma, leading to variety of clinical presentations. Zic4: Autoantibodies to Zic4 are associated with paraneoplastic cerebellar degeneration and the underlying tumor is often a small cell lung cancer. SOX1: In up to 50 % of patients with

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Lambert-Eaton myasthenic syndrome (LEMS) - if cancer is detected, almost always a small cell lung cancer (SCLC). In 43 % of patients with LEMS and SCLC the detectable antibodies are directed to SOX1.

Reference intervals Each test is reported as Positive or Negative

Interferences N/AComment The basic assay only includes Hu, Ri and

Yo. If other tests are required they must be specified.

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Assay NMDASynonyms Fixed NMDASample type/volume One SST (Gold top) tube per patient or

0.5ml CSF.Test instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time Fixed cell assay: 7 DaysLive cell assay: 14 Days

Test indications N-methyl-D-aspartate (NMDA) receptor antibodies are associated with the different sub units of the NMDA receptor. Antibodies to the delta or NR2 subunits of NMDA receptor are associated with limbic encephalitis, systemic lupus erythematosus (SLE), ataxia and epilepsia partialis continua. Antibodies against the NR1, NR2A and NR2B subunits of the NMDA are found in patients presenting with psychiatric symptoms, amnesia, seizures, dyskinesias, autonomic dysfunction and loss of consciousness.

Reference intervals Reported as Positive or NegativeInterferences N/A

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Assay Ovarian antibodiesSynonyms N/ASample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Clinical Laboratory Immunology

Churchill HospitalHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 01865 225995

Turnaround time 20 DaysTest indications Present in patients with either isolated

primary ovarian failure or associated with other autoimmune endocrinopathies eg Hypoadrenalism, Insulin dependent diabetes, Pernicious anaemia.

Reference intervals Reported as Positive or NegativeInterferences N/A

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Assay Phospholipase- 2 Receptor AntibodiesSynonyms PLA2Sample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory Department of Immunology

PO Box 894SHEFFIELDS5 7YT0114 2715552

Turnaround time 14 DaysTest indications The Phospholipase A2 receptor (PLA2R)

antibody is seen in patients with idiopathic membranous nephropathy (IMN).

Reference intervals Normal range <14 RU/mLInterferences N/A

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Assay Specific IgESynonyms RAST, Allergy testSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory A range of allergens are tested in house.

Where this is not possible samples are referred to:Diagnostic Immunology and Allergy King's College HospitalBessemer Wing - 1st FloorDenmark HillLondon SE5 9RS020 3299 1555

Turnaround time 10 Working daysTest indications For the investigation of allergy: only

request clinically indicated allergens.Reference intervals Normal range <0.35 kUA/lInterferences N/A

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Assay SKINSynonyms IMF; Indirect skin immunofluorescenceSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions NoneReferral laboratory N/ATurnaround time 10 Working daysTest indications Immunofluorescence testing plays an

important role in the diagnosis of several autoimmune skin diseases. The blistering skin diseases where IIF is used are:

Pemphigus Vulgaris (PV)Serum antibodies directed against the cell surface of epidermal keratinocytes are found in 90% of patients with Pemphigus and correlate with disease activity.

Bullous PemphigoidSerum antibodies directed against the basement membrane are present in 70% of patients. Antibody levels do not reflect disease activity and antibody tends to persist even following successful therapy. Antibodies are uncommon in normal individuals or in other skin diseases.

Reference intervals QualitativeInterferences N/A

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Assay SLASynonymsSample type/Volume One 7ml SST (Gold top) tube per patientTest instructionsReferral laboratory Diagnostic Immunology and Allergy

Department at King's College HospitalGeneral Enquiry : 020 3299 8752 / 020 3299 1171King's College HospitalBessemer Wing - 1st FloorDenmark HillLondon SE5 9RS

Turnaround time 6 DaysTest indications Part of Liver immunoblot panel, includes

M2, LKM, LC-1 and SLA antibodies.Anti-soluble liver antigen (anti-SLA) is one of a number of autoantibodies associated with autoimmune hepatitis (AIH). However, it is not unique to AIH and has been described in 10% of patients with chronic hepatitis C virus infection. It is detected by immunoassay but not by IIF. The antigenic target is a 50 kD cytosolic protein.

Reference intervals QualitativeInterferences N/A

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Assay Thyroid receptor antibodiesSynonyms TSHR, TRAbSample type/Volume One 7ml SST (Gold top) tube per patientTest instructions N/AReferral laboratory N/ATurnaround time 10 Working daysTest indications Found in Graves’ disease, check

especially in pregnant women with Graves’ disease

Reference intervals <1.75 IU/L = NegativeInterferences N/A

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Assay Voltage Gated Calcium Channel Antibodies

Synonyms VGCCSample type One SST (Gold top) tube per patient,

CSF accepted but serum preferred.Test instructions 1 ml sample volume preferredReferral laboratory Clinical Laboratory Immunology

Churchill HospitalChurchill DriveOld RoadHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 0044 (0) 1865 225995

Turnaround time 21 DaysTest indications The assay is positive in approximately

85% of patients with the Lambert Eaton myasthenic syndrome (with or without small cell lung carcinoma SCLC) and in about 30% of Cerebellar ataxia with SCLC. Calcium channel antibodies are rarely found in patients without myasthenic symptoms, except at low titre in a few cases with small cell lung cancer. This is because small cell lung cancers express this voltage gated calcium channel.

Reference intervals Negative = <45pMLow Positive = 45-100pM

Interferences N/A

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Assay Voltage Gated Potassium Channel Antibodies

Synonyms VGKCSample type One SST (Gold top) tube per patient,

CSF accepted but serum preferredTest instructions 1 ml sample volume preferredReferral laboratory Clinical Laboratory Immunology

Churchill HospitalChurchill DriveOld RoadHeadingtonOxford OX3 7LEUKSpecimen Reception / Enquiries: 0044 (0) 1865 225995

Turnaround time 14 DaysTest indications This test is indicated in the investigation

of acquired neuromyotonia (Isaacs syndrome).  This is a rare and heterogenous syndrome of continuous motor unit activity of peripheral nerve origin that manifests as various combinations of muscle stiffness, cramps, twitching, weakness, and delayed muscle relaxation.

Reference intervals <69 pmol/LInterferences N/A

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