There is no single, specific test for malabsorption. As for most medical conditions, investigation is guided by symptoms and signs. A range of different conditions can produce malabsorption and it is necessary to look for each of these specifically. Many tests have been advocated, and some, such as tests for pancreatic function are complex, vary between centers and have not been widely adopted. However, better tests have become available with greater ease of use, better sensitivity and specificity for the causative conditions. Tests are also needed to detect the systemic effects of deficiency of the malabsorbed nutrients (such as anaemia with vitamin B12 malabsorption).

Screening methods for colon cancer depend on detecting either precancerous changes such as certain kinds of polyps or on finding early and thus more treatable cancer. The extent to which screening procedures reduce the incidence of gastrointestinal cancer or mortality depends on the rate of precancerous and cancerous disease in that population. gFOBT (guaiac fecal occult blood test) and flexible sigmoidoscopy screening have each shown benefit in randomized clinical trials. Evidence for other colon cancer screening tools such as iFOBT (immunochemical fecal occult blood test) or colonoscopy is substantial and guidelines have been issued by several advisory groups but does not include randomized studies.

In 2009 the American College of Gastroenterology (ACG) suggest that colon cancer screening modalities that are also directly preventive by removing precursor lesions should be given precedence, and prefer a colonoscopy every 10 years in average-risk individuals, beginning at age 50. The ACG suggests that cancer detection tests such as any type of FOB are an alternative that is less preferred, and if a colonoscopy is declined, the FIT (fecal immunochemical test, or iFOBT) should be offered instead. Two other recent guidelines, from the US Multisociety Task Force (MSTF) and the US Preventive Services Task Force (USPSTF), while permitting immediate colonoscopy as an option, did not categorize it as preferred. The ACG and MSTF also included CT colonography every five years, and fecal DNA testing as considerations. All three recommendation panels recommended replacing any older low-sensitivity, guaiac-based fecal occult blood testing (gFOBT) with either newer high-sensitivity guaiac-based fecal occult blood testing (hs gFOBT) or fecal immunochemical testing (FIT). MSTF looked at six studies that compared high sensitivity gFOBT (Hemoccult SENSA) to FIT, and concluded that there was no clear difference in overall performance between these methods.

The American College of Gastroenterology has recommended the abandoning of gFOBT testing as a colorectal cancer screening tool, in favor of the fecal immunochemical test. Though the FIT test is preferred, even the guaiac FOB testing of average risk populations may have been sufficient to reduce the mortality associated with colon cancer by about 25%. With this lower efficacy, it was not always cost effective to screen a large population with gFOBT.

If colon cancer is suspected in an individual (such as in someone with an unexplained anemia) fecal occult blood tests may not be clinically helpful. If a doctor suspects colon cancer, more rigorous investigation is necessary, whether or not the test is positive.

In 2006, the Australian Government introduced the National Bowel Cancer Program which has been updated several times since; targeted screening will be done of all Australians aged over 50 to 74 by 2017–2018. Cancer Council Australia recommended that FOBT should be done every two years. Gradually government fund disbursement meant that some people are not yet eligible for the national program and should pay for a FOBT by themselves.

The Canadian Cancer Society recommends that men and women age 50 and over have a FOBT at least every 2 years.

In colon cancer screening, using only one sample of feces collected by a doctor performing a digital rectal examination is discouraged.

The use of the M2-PK Test is encouraged over gFOBT for routine screening as it may pick up tumors that are both bleeding and non bleeding. It is able to pick up 80 percent of colorectal cancer and 44 percent for adenoma > 1 centimeter, while gFOBT picks up 13 to 50 percent of colorectal cancers.

The fat substitute Olestra, used to reduce digestible fat in some foods, was reported to cause leakage in some consumers during the test-marketing phase. As a result, the product was reformulated before general release to a hydrogenated form that is not liquid at physiologic temperature. The U.S. Food and Drug Administration warning indicated excessive consumption of Olestra could result in "loose stools"; however, this warning has not been required since 2003.

An extensive literature has examined the clinical value of FOBT in iron deficiency anemia.

Consuming jojoba oil has been documented to cause steatorrhea and anal leakage because it is indigestible.

Consuming escolar and oilfish (sometimes mislabelled as butterfish) will often cause steatorrhea, also referred to as Gempylotoxism or Gempylid Fish Poisoning or keriorrhea.

The fish is commonly used in party catering due to its delicate flavor and because it is cheap and readily available.

Treatment is directed largely towards management of underlying cause:

- Replacement of nutrients, electrolytes and fluid may be necessary. In severe deficiency, hospital admission may be required for nutritional support and detailed advice from dietitians. Use of enteral nutrition by naso-gastric or other feeding tubes may be able to provide sufficient nutritional supplementation. Tube placement may also be done by percutaneous endoscopic gastrostomy, or surgical jejunostomy. In patients whose intestinal absorptive surface is severely limited from disease or surgery, long term total parenteral nutrition may be needed.

- Pancreatic enzymes are supplemented orally in pancreatic insufficiency.

- Dietary modification is important in some conditions:

- Gluten-free diet in coeliac disease.

- Lactose avoidance in lactose intolerance.

- Antibiotic therapy to treat Small Bowel Bacterial overgrowth.

- Cholestyramine or other bile acid sequestrants will help reducing diarrhoea in bile acid malabsorption.

The tests that are considered to evaluate of the passage of blood in the stool are based on the characteristics of bleeding (color, quantity) and whether or not the person passing blood has a low blood pressure with elevated heart rate, as opposed to normal vital signs. The following tests are combined to determine the causes of the source of bleeding.

- Digital rectal exam (DRE) and fecal occult blood test (FOBT)

- Colonoscopy

- Anoscopy

- Esophagogastroduodenoscopy (EGD)

- Capsule endoscopy

- CT Scan

Melena is defined as dark, tarry stools, often black in color due to partial digestion of the RBCs.

Hematochezia is defined as bright red blood seen in the toilet either inside of, or surrounding the stool.

Hematochezia is typically presumed to come from the lower portion of the GI tract, and the initial steps of diagnosis include a DRE with FOBT, which if positive, will lead to a colonoscopy. If the person has a large amount of blood in their stool, an EGD test may be necessary. If no source of active bleeding is found on these examinations, a capsule endoscopy may be performed, in order to more closely examine the small bowel, which cannot be seen with the other types of studies. With melena, a DRE with FOBT is often also performed, however the suspicion for a source from the upper GI tract is higher, leading first to the use of EGD with the other tests being required if no source is identified. The anoscopy is another type of examination, which can be used along with a colonoscopy, which exams the rectum and distal portion of the descending colon.

Anemia is a common complication of blood in the stool, especially when there is a large amount of blood or bleeding occurs over a long period of time. Anemia is also commonly associated with an iron deficiency, due to the importance of iron in the formation of red blood cells (RBCs). When anemia is diagnosed as a result of blood in the stool, vitamins that are important for RBC formation (folate, vitamin B12, and vitamin C) are frequently prescribed in order to ensure that all the materials are available for those cells that are made.

A physical examination should involve at least an abdominal exam and rectal exam. Abdominal exam may reveal an abdominal mass if there is significant stool burden and may reveal abdominal discomfort. Rectal examination gives an impression of the anal sphincter tone and whether the lower rectum contains any feces or not. Rectal examination also gives information on the consistency of the stool, the presence of hemorrhoids, blood and whether any perineal irregularities are present including skin tags, fissures, anal warts. Physical examination is done manually by a physician and is used to guide which diagnostic tests to order.

Functional constipation is common and does not warrant diagnostic testing. Imaging and laboratory tests are typically recommended for those with alarm signs or symptoms.

The laboratory tests performed depends on the suspected underlying cause of the constipation. Tests may include CBC (complete blood count), thyroid function tests, serum calcium, serum potassium, etc.

Abdominal X-rays are generally only performed if bowel obstruction is suspected, may reveal extensive impacted fecal matter in the colon, and may confirm or rule out other causes of similar symptoms.

Colonoscopy may be performed if an abnormality in the colon like a tumor is suspected. Other tests rarely ordered include anorectal manometry, anal sphincter electromyography, and defecography.

Colonic propagating pressure wave sequences (PSs) are responsible for discrete movements of the bowel contents and are vital for normal defecation. Deficiencies in PS frequency, amplitude, and extent of propagation are all implicated in severe defecatory dysfunction (SDD). Mechanisms that can normalize these aberrant motor patterns may help rectify the problem. Recently the novel therapy of sacral nerve stimulation (SNS) has been utilized for the treatment of severe constipation.

The initial workup of abetalipoproteinemia typically consists of stool sampling, a blood smear, and a fasting lipid panel though these tests are not confirmatory. As the disease is rare, though a genetics test is necessary for diagnosis, it is generally not done initially.

Acanthocytes are seen on blood smear. Since there is no or little assimilation of chylomicrons, their levels in plasma remains low.

The inability to absorb fat in the ileum will result in steatorrhea, or fat in the stool. As a result, this can be clinically diagnosed when foul-smelling stool is encountered. Low levels of plasma chylomicron are also characteristic.

There is an absence of apolipoprotein B. On intestinal biopsy, vacuoles containing lipids are seen in enterocytes. This disorder may also result in fat accumulation in the liver (hepatic steatosis). Because the epithelial cells of the bowel lack the ability to place fats into chylomicrons, lipids accumulate at the surface of the cell, crowding the functions that are necessary for proper absorption.

Reducing opiate-based medication (when possible, tolerable, and safe; prescription medication changes should be done under the supervision of a physician), and adequate intake of liquids (water) and dietary fiber and daily exercise.

The treatment of fecal impaction requires both the remedy of the impaction and treatment to prevent future recurrences. Decreased motility of the colon results in dry, hard stools that in the case of fecal impaction become compacted into a large, hard mass of stool that cannot be expelled from the rectum.

Various methods of treatment attempt to remove the impaction by softening the stool, lubricating the stool, or breaking it into pieces small enough for removal. Enemas and osmotic laxatives can be used to soften the stool by increasing the water content until it is soft enough to be expelled. Osmotic laxatives such as magnesium citrate work within minutes - 8 hours for onset of action, and even then they may not be sufficient to expel the stool.

Osmotic laxatives can cause cramping and even severe pain as the patient's attempts to evacuate the contents of the rectum are blocked by the fecal mass. Polyethylene glycol (PEG 3500) may be used to increase the water content of the stool without cramping; however, since it may take 24 to 48 hours for it to take effect, it is not well suited to cases where the impaction needs to be removed immediately due to risk of complications or severe pain. Enemas (such as hyperosmotic saline) and suppositories (such as glycerine suppositories) work by increasing water content and stimulating peristalsis to aid in expulsion, and both work much more quickly than oral laxatives.

Because enemas work in 2–15 minutes, they do not allow sufficient time for a large fecal mass to soften. Even if the enema is successful at dislodging the impacted stool, the impacted stool may remain too large to be expelled through the anal canal. Mineral oil enemas can assist by lubricating the stool for easier passage. In cases where enemas fail to remove the impaction, polyethylene glycol can be used to attempt to soften the mass over 24–48 hours, or if immediate removal of the mass is needed, manual disimpaction may be used. Manual disimpaction may be performed by lubricating the anus and using one gloved finger with a scoop-like motion to break up the fecal mass. Most often manual disimpaction is performed without general anaesthesia, although sedation may be used. In more involved procedures, general anaesthesia may be used, although the use of general anaesthesia increases the risk of damage to the anal sphincter. If all other treatments fail, surgery may be necessary.

Individuals who have had one fecal impaction are at high risk of future impactions. Therefore, preventative treatment should be instituted in patients following the removal of the mass. Increasing dietary fiber, increasing fluid intake, exercising daily, and attempting regularly to defecate every morning after eating should be promoted in all patients.

Often underlying medical conditions cause fecal impactions; these conditions should be treated to reduce the risk of future impactions. Many types of medications (most notably opioid pain medications, such as codeine) reduce motility of the colon, increasing the likelihood of fecal impactions. If possible, alternate medications should be prescribed that avoid the side effect of constipation.

Given that all opioids can cause constipation, it is recommended that any patient placed on opioid pain medications should be given medications to prevent constipation before it occurs. Daily medications can also be used to promote normal motility of the colon and soften stools. Daily use of laxatives or enemas should be avoided by most individuals as it can cause the loss of normal colon motility. However, for patients with chronic complications, daily medication under the direction of a physician may be needed.

Polyethylene glycol 3350 can be taken daily to soften the stools without the significant risk of adverse effects that are common with other laxatives. In particular, stimulant laxatives should not be used frequently because they can cause dependence in which an individual loses normal colon function and is unable to defecate without taking a laxative. Frequent use of osmotic laxatives should be avoided as well as they can cause electrolyte imbalances.

The concentration of ketone bodies may vary depending on diet, exercise, degree of metabolic adaptation and genetic factors. Ketosis can be induced when a ketogenic diet is followed for more than 3 days. This induced ketosis is sometimes called nutritional ketosis. This table shows the concentrations typically seen under different conditions

Note that urine measurements may not reflect blood concentrations. Urine concentrations are lower with greater hydration, and after adaptation to a ketogenic diet the amount lost in the urine may drop while the metabolism remains ketotic. Most urine strips only measure acetoacetate, while when ketosis is more severe the predominant ketone body is β-hydroxybutyrate. Unlike glucose, ketones are excreted into urine at any blood level. Ketoacidosis is a metabolic derangement that cannot occur in a healthy individual who can produce insulin, and should not be confused with physiologic ketosis.

Investigations are performed to exclude other conditions:

- Stool microscopy and culture (to exclude infectious conditions)

- Blood tests: Full blood examination, liver function tests, erythrocyte sedimentation rate, and serological testing for coeliac disease

- Abdominal ultrasound (to exclude gallstones and other biliary tract diseases)

- Endoscopy and biopsies (to exclude peptic ulcer disease, coeliac disease, inflammatory bowel disease, and malignancies)

- Hydrogen breath testing (to exclude fructose and lactose malabsorption)

Some clinicians regard eliminating carbohydrates as unhealthy and dangerous. However, it is not necessary to eliminate carbohydrates from the diet completely to achieve ketosis. Other clinicians regard ketosis as a safe biochemical process that occurs during the fat-burning state. Ketosis, which is accompanied by gluconeogenesis (the creation of glucose de novo from pyruvate), is the specific state that concerns some clinicians. However, it is unlikely for a normally functioning person to reach life-threatening levels of ketosis, defined as serum beta-hydroxybutyrate (B-OHB) levels above 15 millimolar (mM) compared to ketogenic diets among non diabetics, which "rarely run serum B-OHB levels above 3 mM." This is avoided with proper basal secretion of pancreatic insulin. People who are unable to secrete basal insulin, such as type 1 diabetics and long-term type II diabetics, are liable to enter an unsafe level of ketosis, eventually resulting in a coma that requires emergency medical treatment. The anti-ketosis conclusions have been challenged by a number of doctors and advocates of low-carbohydrate diets, who dispute assertions that the body has a preference for glucose and that there are dangers associated with ketosis.

No specific laboratory or imaging test can be performed to diagnose irritable bowel syndrome. Diagnosis involves excluding conditions that produce IBS-like symptoms, and then following a procedure to categorize the patient's symptoms. Ruling out parasitic infections, lactose intolerance, small intestinal bacterial overgrowth, and celiac disease is recommended for all patients before a diagnosis of irritable bowel syndrome is made. In patients over 50 years old, they are recommended to undergo a screening colonoscopy. IBS sufferers are at increased risk of being given inappropriate surgeries such as appendectomy, cholecystectomy, and hysterectomy due to their IBS symptoms being misdiagnosed as other medical conditions.

The psychiatric (DSM-IV) diagnostic criteria for encopresis are:

1. Repeated passage of feces into inappropriate places (e.g., underwear or floor) whether voluntary or unintentional

2. At least one such event a month for at least 3 months

3. Chronological age of at least 4 years (or equivalent developmental level)

4. The behavior is not exclusively due to a physiological effect of a substance (e.g., laxatives) or a general medical condition, except through a mechanism involving constipation.

The DSM-IV recognizes two subtypes: with constipation and overflow incontinence, and without constipation and overflow incontinence. In the subtype with constipation, the feces are usually poorly formed and leakage is continuous, and this occurs both during sleep and waking hours. In the type without constipation, the feces are usually well-formed, soiling is intermittent, and feces are usually deposited in a prominent location. This form may be associated with oppositional defiant disorder (ODD) or conduct disorder, or may be the consequence of large anal insertions, or more likely due to chronic encopresis that has radically desensitized the colon and anus.

If treatment is initiated early in disease the neurologic sequelae may be reversed and further deterioration can be prevented.

Diagnosis of Fatty-acid metabolism disorder requires extensive lab testing.

Normally, in cases of hypoglycaemia, triglycerides and fatty acids are metabolised to provide glucose/energy. However, in this process, ketones are also produced and ketotic hypoglycaemia is expected. However, in cases where fatty acid metabolism is impaired, a non-ketotic hypoglycaemia may be the result, due to a break in the metabolic pathways for fatty-acid metabolism.

Many pediatricians will recommend the following three-pronged approach to the treatment of encopresis associated with constipation:

1. cleaning out

2. using stool softening agents

3. scheduled sitting times, typically after meals.

The initial clean-out is achieved with enemas, laxatives, or both. The predominant approach today is the use of oral stool softeners like Movicol, Miralax, Lactulose, mineral oil, etc. Following that, enemas and laxatives are used daily to keep the stools soft and allow the stretched bowel to return to its normal size.

The child must be taught to use the toilet regularly to retrain his/her body. It is usually recommended that a child be required to sit on the toilet at a regular time each day and 'try' to go for 10–15 minutes, usually soon (or immediately) after eating. Children are more likely to be able to expel a bowel movement right after eating. It is thought that creating a regular schedule of bathroom time will allow the child to achieve a proper elimination pattern. Repeated voiding success on the toilet itself helps it become a releasor stimulus for successful bowel movements.

Alternatively, when this method fails for six months or longer, a more aggressive approach may be undertaken using suppositories and enemas in a carefully programmed way to overcome the reflexive holding response and to allow the proper voiding reflex to take over. Failure to establish a normal bowel habit can result in permanent stretching of the colon. Certainly, allowing this problem to continue for years with constant assurances that the child "will grow out of it" should be avoided.

Dietary changes are an important management element. Recommended changes to the diet in the case of constipation-caused encopresis include:

1. reduction in the intake of constipating foods such as dairy, peanuts, cooked carrots, and bananas

2. increase in high-fiber foods such as bran, whole wheat products, fruits, and vegetables

3. higher intake of water and liquids, such as juices, although an increased risk of tooth decay has been attributed to excess intake of sweetened juices

4. limit drinks with caffeine, including cola drinks and tea

5. provide well-balanced meals and snacks, and limit fast foods/junk foods that are high in fats and sugars

6. limit whole milk to 500 mL (16.9 ounces) a day for the child over 2 years of age, but do not completely eliminate milk because children need calcium for bone growth and strength.

The standard behavioral treatment for functional encopresis, which has been shown to be highly effective, is a motivational system such as a contingency management system. In addition to this basic component, seven or eight other behavioral treatment components can be added to increase effectiveness.

An intussusception is often suspected based on history and physical exam, including observation of Dance's sign. A digital rectal examination is particularly helpful in children, as part of the intussusceptum may be felt by the finger. A definite diagnosis often requires confirmation by diagnostic imaging modalities. Ultrasound is the imaging modality of choice for diagnosis and exclusion of intussusception, due to its high accuracy and lack of radiation. The appearance of target sign (also called "doughnut sign" on a sonograph, usually around 3 cm in diameter, confirms the diagnosis. The image seen on transverse sonography or computed tomography is that of a doughnut shape, created by the hyperechoic central core of bowel and mesentery surrounded by the hypoechoic outer edematous bowel. In longitudinal imaging, intussusception resembles a sandwich.

An x-ray of the abdomen may be indicated to check for intestinal obstruction or free intraperitoneal gas. The latter finding implies that bowel perforation has already occurred. Some institutions use air enema for diagnosis, as the same procedure can be used for treatment.

Besides the clinical picture, fasting VIP plasma level may confirm the diagnosis, and CT scan and somatostatin receptor scintigraphy are used to localise the tumor, which is usually metastatic at presentation.

Tests include:

- Blood chemistry tests (basic or comprehensive metabolic panel)

- CT scan of the abdomen

- MRI of the abdomen

- Stool examination for cause of diarrhea and electrolyte levels

- Vasoactive intestinal peptide (VIP) level in the blood

In children, insussusception at the ileocecal junction and accounts for 90 percent of all cases.

Pancreatic disorders are often accompanied by weakness and fatigue. The past Medical history may reveal previous disorders of the biliary tract or duodenum, abdominal trauma or surgery, and metabolic disorders such as diabetes mellitus. The medication history should be detailed and specifically include the use of thiazides, furosemide, estrogens, corticosteroids, sulfonamides, and opiates. Note a family history of pancreatic disorders. In the review of systems, obtain a complete description of any pain in the upper abdomen or epigastric area. Symptoms that may be important in relation to pancreatic disorders are pruritus, abdominal pain, dyspnea, nausea, and vomiting. The functional assessment includes data about the patient’s dietary habits and use of alcohol.

Note any restlessness, flushing, or diaphoresis during the examination. Vital signs may disclose low-grade fever, tachypnea, tachycardia, and hypotension. Inspect the skin for jaundice. Assess the abdomen for distention, tenderness, discoloration, and diminished bowel sounds.

Tests and procedures used to diagnose pancreatic disorders include laboratory analyses of blood, urine, stool, and pancreatic fluid, and imaging studies. Specific blood studies used to assess pancreatic function include measurements of serum amylase, lipase, glucose, calcium, and triglyceride levels. Urine amylase and renal amylase clearance tests may also be ordered. Stool specimens may be analyzed for fat content. The secretin stimulation test measures the bicarbonate concentration of pancreatic fluid after secretin is given intravenously to stimulate the production of pancreatic fluid.