All Autoimmune Tests

Over 80 diseases result from autoimmune responses, and the following tests are used to confirm the diagnosis and monitor the various autoimmune disorders.

Your body's immune system naturally helps fight against harmful bacteria and other foreign substances. This natural response revolves around antibodies and specific immune cells. Autoimmune diseases occur when your body's immune system fights against normal constituents, instead of harmful bacteria and other foreign substances. It has everything to do with your immune system failing to discern between "self" vs. "non-self" constituents. This failure to discern may produce immune cells or antibodies (or auto-antibodies) that target the body's own cells, tissues, and/or organs. These attacks cause inflammation and tissue damage that result in autoimmune disorders. 

SEE BELOW THE LIST OF TESTS FOR MORE INFORMATION ABOUT Autoimmune diseases


Name Matches
Myasthenia Gravis (MG) is a neuromuscular disorder characterized by muscle weakness, most commonly due to autoantibody-mediated loss of functional acetylcholine receptors (AChR) in the neuromuscular junction. This assay aids in the differential diagnosis of MG-like muscle weakness, in differentiating between generalized MG and ocular MG, and in monitoring therapeutic response. If binding antibodies are negative, assays for blocking and modulating antibodies should be considered.

Myasthenia gravis (MG) is a neuromuscular disorder characterized by muscle weakness, most commonly due to autoantibody-mediated loss of functional acetylcholine receptors (AChR) in the neuromuscular junction. This assay is most useful when the acetylcholinesterase receptor modulating antibodies are positive. The assay for blocking antibodies is useful in monitoring response to therapy.

Myasthenia gravis (MG) is a neuromuscular disorder characterized by muscle weakness, most commonly due to autoantibody-mediated loss of functional acetylcholine receptors (AChR) in the neuromuscular junction. Modulating Antibody to AChR causes weakness by inhibiting or modulating binding to the receptors.

Actin is the major antigen to which smooth muscle antibodies react in autoimmune hepatitis. F-Actin IgG antibodies are found in 52-85% of patients with autoimmune hepatitis (AIH) or chronic active hepatitis and in 22% of patients with primary biliary cirrhosis (PBC). Anti-actin antibodies have been reported in 3-18% of sera from normal healthy controls.

Alternative Complement Pathway Functional, Serum

Preferred Specimen(s)

  • 1 mL serum collected in a red-top tube (no gel)
  • Minimum Volume 0.2 mL

SSPECIAL Collection Instructions

  1.  Immediately after specimen collection, place the tube on wet ice.
  2. Centrifuge at 4° C and aliquot serum into plastic vial.
  3. Freeze specimen within 30 minutes.

Transport Container

  • Transport tube
  • Transport Temperature: Frozen

 

Patient Preparation

  • Fasting preferred

Methodology

Enzyme Linked Immunosorbent Assay (ELISA)

Assay Category

This test uses a reagent or kit labeled by the manufacturer as research use only. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the FDA.


ALTERNATIVE PATHWAY ACTIVITY


Antinuclear antibodies are associated with rheumatic diseases including Systemic Lupus Erythematous (SLE), mixed connective tissue disease, Sjogren's syndrome, scleroderma, polymyositis, CREST syndrome, and neurologic SLE. 

Reflex Information: If ANA Screen, IFA is positive, then ANA Titer and Pattern will be performed at an additional charge.



ANAlyzeR™ ANA, IFA with Reflex Titer/Pattern, Systemic Autoimmune Panel 1

Includes

  • ANA Screen,IFA, with Reflex to Titer and Pattern
  • DNA (ds) Antibody, Crithidia IFA with Reflex to Titer
  • Chromatin (Nucleosomal) Antibody
  • Sm Antibody
  • Sm/RNP Antibody
  • RNP Antibody
  • Sjogren's Antibodies (SS-A, SS-B)
  • Scleroderma Antibody (Scl-70)
  • Jo-1 Antibody
  • Centromere B Antibody
  • Complement Component C3c and C4c
  • Cardiolipin Antibodies (IgA, IgG, IgM)
  • Beta-2-Glycoprotein I Antibodies (IgG, IgA, IgM)
  • Rheumatoid Factor (IgA, IgG, IgM)
  • Cyclic Citrullinated Peptide (CCP) Antibody (IgG)
  • 14.3.3 eta Protein
  • Thyroid Peroxidase Antibodies (TPO)

 

  • If ANA Screen, IFA is positive, then ANA Titer and Pattern will be performed at an additional charge (CPT code(s): 86039).
  • If the DNA (ds) Antibody Screen is positive, then DNA (ds) Antibody Titer will be performed at an additional charge (CPT code(s): 86256).

 

Alternative Name(s)

Expanded ANA Antibodies,Systemic Autoimmune Disorder,ANA and Expanded AI Testing,ANA and Systemic Autoimmunity,Comprehensive AI Testing,Early Systemic Autoimmune Disease,Autoimmune Disorders


Testing for anti-neutrophil cytoplasmic antibodies (P-ANCA and/or C-ANCA and/or atypical P-ANCA) has been found to be useful in establishing the diagnosis of suspected vascular diseases, inflammatory bowel disease, as well as other autoimmune diseases.

Testing for anti-neutrophil cytoplasmic antibodies (P-ANCA and/or C-ANCA) has been found to be useful in establishing the diagnosis of suspected vascular diseases (e.g., crescentic glomerulonephritis, microscopic polyarteritis and Churg-Strauss syndrome), bowel disease (Crohn's Disease, ulcerative colitis, primary sclerosing cholangitis, and autoimmune hepatitis) as well as with other autoimmune diseases (drug-induced lupus, SLE, Felty's syndrome). ANCA has classically been divided into C-ANCA and P-ANCA depending on the immunofluorescent pattern observed. More recently the specific antigens responsible for these patterns have been described and isolated. The antigen that gives the C-ANCA pattern is proteinase-3 (PR-3). Multiple antigens are responsible for P-ANCA pattern, the principle antigen being myeloperoxidase (MPO). Patients with vascular diseases will generally have either a C-ANCA pattern or P-ANCA pattern, and give positive results in specific tests for PR-3 or MPO. Patients with bowel disease have been shown to have antibodies that give a P-ANCA or C-ANCA pattern. These antibodies however, may not be directed towards MPO. Patients with drug induced lupus, etc., often present with a P-ANCA pattern that is associated with antibodies against MPO.

Apolipoprotein A1 (APO A1) has been reported to be a better predictor than HDL cholesterol and triglycerides for Coronary Artery Disease (CAD). Low levels of APO A1 in serum are associated with increased risk of CAD. The measurement of APO A1 may be of value in identifying patients with atherosclerosis. Apolipoprotein B (APO B) has been reported to be a more powerful indicator of CAD than total cholesterol or LDL cholesterol in angiographic CAD and in survivors of myocardial infarction. In some patients with CAD, APO B is elevated even in the presence of normal LDL cholesterol.

Beta-2-Glycoprotein 1, apolipoprotein H, is a cofactor in antiphospholipid antibody binding and is the critical antigen in the antiphospholipid antibody syndrome. Beta-2-Glycoprotein 1 Antibody is more specific than Cardiolipin Antibody that may express reactivity in patients with syphilis and other infectious diseases

Beta-2-Glycoprotein 1, apolipoprotein H, is a cofactor in antiphospholipid antibody binding and is the critical antigen in the antiphospholipid antibody syndrome. Beta-2-Glycoprotein 1 Antibody is more specific than cardiolipin antibody that may express reactivity in patients with syphilis and other infectious diseases.

Beta-2-Glycoprotein 1, apolipoprotein H, is a cofactor in antiphospholipid antibody binding and is the critical antigen in the antiphospholipid antibody syndrome. Beta-2-Glycoprotein 1 Antibody is more specific than cardiolipin antibody that may express reactivity in patients with syphilis and other infectious diseases.

Beta-2-Glycoprotein 1, apolipoprotein H, is a cofactor in antiphospholipid antibody binding and is the critical antigen in the antiphospholipid antibody syndrome. Beta-2-Glycoprotein 1 Antibody is more specific than cardiolipin antibody that may express reactivity in patients with syphilis and other infectious diseases.

Beta-2-microglobulin normally passes through the glomerulus into the proximal tubule where much of it is reabsorbed. Serum levels are therefore an index of glomerular function. When impaired, serum levels rise in inverse ratio to glomerular filtration rate. Increased amounts of beta-2-microglobulin are excreted in several renal disorders, e.g., Balkan nephropathy, heavy metal poisoning and renal tubular disease due to therapeutic agents. Serial levels of beta-2-microglobulin in serum and urine are used to evaluate transplant viability and anticipate rejection. Following a successful graft, serum levels decline toward normal. Increasing serum levels provide an early sign of rejection. Elevated levels are also noted in lymphproliferative disorders, neoplasms (malignant and benign), inflammatory disease, and autoimmune diseases such as systemic lupus erythematosus (SLE) and Sjögren's disease

Collection Instructions

Allow sample to clot for 30 minutes, spin at 3,000 RPM for 10 minutes and transfer serum to plastic, amber vial. If amber vial is not available, wrap tube in aluminum foil to protect from light. Freeze within 30 minutes and send frozen.


Clinical Significance

To detect the presence of autoantibodies specific to Bp 180 in a patient's sera as an aid to diagnosis bullous pemphigoid.


Clinical Significance

Bullous pemphigoid (BP) is a chronic blistering disorder found mainly in the elderly but occasionally encountered in children. It is characterized by frequent recurring tense blisters and erythema. IgG anti-basement membrane zone (BMZ) antibodies are found in the serum of patients, and immunofluorescence demonstrates linear staining with IgG or C3 at the BMZ of the lesion. Target antigens of the autoantibodies in BP patient serum are BP180 and BP230, also called BPAG1 and BPAG2. Anti-BP230 is highly specific to BP and considered to be a useful serologic marker of the the disease. The BP230 ELISA kit has recombinant protein of both N-terminus and C-terminus of BP230 as solid phase and measures anti-BP230 autoantibodies in patient serum specifically.


Increased CRP levels are found in inflammatory conditions including: bacterial infection, rheumatic fever, active arthritis, myocardial infarction, malignancies and in the post-operative state. This test cannot detect the relatively small elevations of CRP that are associated with increased cardiovascular risk.

C-Reactive Protein Cardiac (hs CRP) Useful in predicting risk for cardiovascular disease.


C3a desArg is a cleavage product of C3 complement component activation. Elevated levels of C3a have been reported in patients with acute lyme disease, acute pancreatitis, systemic lupus erythematosus, and adult respiratory distress syndrome.


C4B is a complement binding protein that specifically binds 50% circulating protein S, a vitamin K dependent cofactor of protein C activation. Since C4B may be elevated in certain disease states, this may affect the available "free protein S" to engage in anticoagulant activity.

Most Popular
Useful in predicting risk of cardiovascular disease.


How familiar are you with autoimmune diseases? 

Your body’s immune system naturally helps fight against harmful bacteria and other foreign substances. This natural response revolves around antibodies and specific immune cells. Autoimmune diseases occur when your body’s immune system fights against normal constituents, instead of harmful bacteria and other foreign substances. It has everything to do with your immune system failing to discern between “self” vs. “non-self” constituents.  This failure to discern may produce immune cells or antibodies (or auto-antibodies) that target the body’s own cells, tissues, and/or organs.  These attacks cause inflammation and tissue damage that result in autoimmune disorders. 

Over 80 diseases have been classified as resulting from autoimmune responses, and there is evidence to suggest that there are 40 other diseases that may have an autoimmune basis.

According to the National Institutes of Health, nearly 24 million people in the US suffer from autoimmune disease. While the majority of these diseases are, in fact, rare, the number of people suffering from them continues to rise. These diseases affect women on a larger scale than men. In the case of Lupus, women are ten times more likely to be affected.

Medical professionals are unaware of what causes most autoimmune diseases, save for the fact that genetic predisposition seems to play its part. There are some autoimmune diseases, like rheumatic fever, where a virus or bacterial infection is what leads to the confused immune response. T-cells are antibodies and immune cells that attack good cells.  The T-cells misidentify the good cells as the microbes that are infecting the body.

There are two main types of autoimmune diseases, systemic and localized. The systemic autoimmune diseases are disorders that lead to multi-organ damage. In contrast, the localized autoimmune disorders lead to direct damage to a single organ or tissue. The lines can be blurred between the two types; however, as medical professionals point out that the damage caused by localized autoimmune disorders often indirectly impacts other organs and systems in the body.

There are also instances where certain autoimmune diseases do not cause antibodies to attack a particular organ or tissue but rather a certain type of cell. One example involves anti-phospholipid antibodies and how they attack regular platelet phospholipids. This happens inside blood vessels, and the event can lead to improper blood clot formation and thrombosis.

Autoimmune diseases aren’t always easily recognizable either, especially systemic disorders. Multiple symptoms that frequently change in severity can leave doctors searching for a diagnosis for an extended period of time. Any vague and slow to develop signs and symptoms, although present, can also serve to be misleading to medical professionals. There are a variety of symptoms that stem from the various autoimmune diseases, including joint pain, fever, and fatigue. Many people also report a feeling of generally being unwell.

Which lab tests are used to detect autoimmune disorders depends on which disease a medical professional suspects to be the culprit. Blood tests are commonly used for diagnosis because doctors need to know what autoantibodies are in attack mode. Two inflammation tests, CRP (or C-reactive protein) and ESR (or erythrocyte sedimentation rate), are also commonly used in diagnosis. Sometimes a person may have more than a single autoimmune disease.  As examples, individuals who suffer from Addison disease often are type 1 diabetics, and people with sclerosing cholangitis often suffer from ulcerative colitis.

Below is a list of several of the more well-known autoimmune diseases. You can also find out additional information from the AARDA (American Autoimmune Related Diseases Association) about these diseases and more.

  • Addison Disease
  • Antiphospholipid Syndrome
  • Autoimmune Hepatitis
  • Celiac Disease
  • Graves’ Disease
  • Guillain-Barre Syndrome
  • Hashimoto Thyroiditis
  • Inflammatory Bowel Disease
  • Multiple Sclerosis
  • Myasthenia Gravis
  • Pernicious Anemia
  • Primary Biliary Cirrhosis
  • Sclerosing Cholangitis (see Autoimmune-associated Liver Diseases)
  • Reactive Arthritis
  • Rheumatoid Arthritis
  • Juvenile Rheumatoid Arthritis
  • Sarcoidosis
  • Scleroderma
  • Sjögren Syndrome
  • Lupus (Systemic Lupus Erythematosus or SLE)
  • Type 1 Diabetes
  • Vasculitis

Sarcoidosis is a medical condition caused by immune system cells clumping together to form lumps called granulomas. Granulomas can develop in any part of the body, but the most common (and serious) sites where they form are in the lungs, eyes, lymph nodes, and skin. Granulomas often disappear on their own within two to three years. Sometimes, though, granulomas clump together. When this occurs in an important organ, it can cause it to become inflamed. If the granulomas persist for long enough, they can impede the function of the organ and cause fibrosis, that is, permanent scarring. 

The precise cause of sarcoidosis is not well understood. Many risk factors are believed to contribute to the disease, including genetic predisposition, immune system overreactions when exposed to bacteria or viruses, and environmental triggers like chemicals and allergens. 

Sarcoidosis occurs in people of all ages and communities, but sufferers are most commonly over the age of 55 and of Northern European or African descent. In the United States, African American women are the demographic group most often diagnoses with sarcoidosis. The US reports more than 25,000 new cases of sarcoidosis per year. 

The severity and duration of sarcoidosis vary from patient to patient: 

  • You may have sarcoidosis without ever noticing symptoms. Mild cases may cause non-specific symptoms that are easily mistaken for other conditions. 
  • You may experience an acute case of sarcoidosis which resolves on its own within a few years. This is called “remission.” Acute sarcoidosis may or may not return in the future. 
  • You may have chronic sarcoidosis, growing worse over time. 

The National Heart Lung and Blood Institute reports that half of all sarcoidosis sufferers will go into remission within three years of being diagnosed. At 10 years after diagnosis, two-thirds of sufferers will be in remission. 

Sarcoidosis does not cause long-term health effects for most sufferers. However, about one-third of those with the disease will experience organ damage to some extent. People who suffer sarcoidosis in their lungs or hearts may experience severe consequences, including death. Sarcoidosis can, on rare occasions, cause blindness. 

Symptoms  

The symptoms you may experience with sarcoidosis vary widely in type and severity. The specific tissues and organs affected by the disease matter and symptoms can change over time. Some people with sarcoidosis experience no symptoms at all. Some symptoms are very similar to those caused by other health conditions.

Examples of these include: 

  • Fever 
  • Weight loss 
  • Fatigue 
  • Loss of appetite 
  • Night sweats 
  • Swollen and/or painful joints 
  • Swollen lymph nodes 

The symptoms may be different, depending on which organs are affected: 

The Lungs 

According to the American Lung Association, up to 90 percent of all sarcoidosis cases affect the lungs. Sarcoidosis symptoms in the lungs tend to worsen over time as scar tissue forms, and the lungs become stiff. Common symptoms include: 

  • Dry coughing 
  • Shortness of breath 
  • Wheezing or strained breathing 
  • Pain, tightness, or discomfort in the chest 

The Skin 

Skin issues occur in roughly one-quarter of all sarcoidosis cases. Signs and symptoms include: 

  • Sores appearing on the cheeks, nose, eyelids, and ears 
  • Bumpy rashes on the ankles or shins — these appear reddish and raised, and may feel tender, warm, or itchy 
  • Inflammation and raised skin around scars 
  • Skin discoloration 

The Eyes 

Symptoms that affect the eyes include: 

  • Light sensitivity 
  • Blurred vision 
  • Pain or itching 
  • Excessive tears 
  • Red or burning eyes 
  • Inflammation 

The Heart 

Symptoms that are common when the heart is affected include: 

  • Abnormal heart rhythm 
  • Chest pain 
  • Rapid heartbeat 
  • Symptoms like congestive heart failure, including shortness of breath, coughing, wheezing, and swollen legs and ankles. 

The Nervous System 

Symptoms affecting the nervous system and brain include: 

  • Headaches 
  • Seizures 
  • Loss of coordination 
  • Fatigue 
  • Tremors 

Skeleton and/or Muscles 

If sarcoidosis granulomas occur in the bones or muscles, they may cause pain and/or joint stiffness. 

Other symptoms 

May also cause the following effects: 

  • Swollen salivary glands 
  • Enlarged liver 
  • Enlarged spleen 
  • Kidney stones 
  • Kidney failure (rare) 

Testing

Testing for sarcoidosis involves determining which tissues are affected as well as accurately diagnosing the disease. Tests are also used to gauge the severity of the disease and monitor its progress. It’s also important to rule out other conditions that may cause similar granulomas. These include tuberculosis and certain fungal infections. 

Lab Tests 

  • ACE (Angiotensin Converting Enzyme) This test is useful for diagnosing Sarcoidosis and monitoring both the progress of the disease and its response to treatment. Sarcoidosis causes elevated ACE levels, but other conditions can also have this effect. Examples include diabetes, hyperthyroidism, tuberculosis, and fungal infections. 
  • Liver Panel or CMP (Comprehensive Metabolic Panel) This is a battery of tests that assess the function of the liver and or kidneys. They can tell if those organs have been damaged by the disease. 
  • CBC (Complete Blood Count) This test may be ordered to evaluate red and white blood cells. 
  • C-Reactive Protein (CRP) A key test to detect inflammation. ESR (Erythrocyte Sedimentation Rate) testing may be used as an alternative. 
  • Calcium Elevated calcium levels in the blood or urine may be a sign of sarcoidosis. This is because the granulomas produce vitamin D, which increases calcium absorption in the intestines. 
  • Vitamin D A vitamin D test is often used as a follow-up if elevated calcium levels are detected. 
  • Cerebrospinal Fluid (CSF) Analysis This test may be used to confirm or deny sarcoidosis in the brain or nervous system. 
  • AFB TestingSputum CulturesFungal Tests These are all used to rule out other conditions that may cause signs and symptoms like sarcoidosis.