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Diagnosis of DAO Deficiency

Diaminoxidase deficiency (DAO), a metabolic disorder that has a significant impact on health, can be quickly detected by a simple saliva test. The test is, in fact, a genetic test, aimed at identifying the genetic cause of the reduced activity of the enzyme DAO, which plays an essential role in the metabolism of histamine in food.

The DAO deficiency genetic test is a modern and painless test that uses the oral mucosa to identify the genetic origin of the DAO deficiency. Thanks to the optimization of the sample analysis technique and the location of the key variants in the DNA associated with dao deficiency, the genetic test reduces the waiting time for the results, providing a detailed report in 10 working days.

Genetic testing vs. classical testing

The most common method of detecting DAO deficiency is to measure the plasma level of the DAO enzyme in the blood. Therefore, the most common procedure used is a blood test by which the activity of this enzyme is measured. The limits of the blood test are multiple. Among them we mention: it does not detect the cause of the imbalance and does not show why the enzymatic activity is deficient.

The DAO deficiency genetic test offers numerous benefits to both affected people and specialist doctors, compared to the classic DAO deficiency detection tests currently used:

  • It does not hurt and does not create any discomfort
  • It is carried out from a sample from the oral mucosa (oral scraping), which facilitates access to and performance of the test
  • Incorporates the 4 most common genetic variants associated with DAO deficient activity: 4 polymorphisms of the AOC1/ABP1 gene responsible for coding the DAO enzyme:
  1. c.47C>T (rs10156191),
  2. c.995C>T (rs1049742),
  3. c.1990C>G (rs1049793),
  4. c.691G>T (rs2052129)
  • The genetic component is assessed as a cause of DAO deficiency
  • Establishes the type of deficiency: primary (genetic) or secondary (acquired, therefore reversible) of Histamine intolerance.
  • It’s fast, with results provided in 10 business days
  • Helps establish a complete and effective treatment plan
  • It is unique: verified result for life.

How to perform the genetic test for DAO deficiency?

The test is carried out from a sample taken from the oral mucosa by means of a cotton stick. Specifically, the doctor inserts the chopstick into the oral cavity and walks it up and down the inside of the cheek area for at least 1 minute, firmly pressing. Two samples are taken, one from the inside of the left cheek and one from the inside of the right cheek, after which the sticks are inserted into a protective tube, on which the patient’s data are noted.

Once in the laboratory, several steps are initiated to perform the analysis, in the order below:

  • Dna isolates
  • Dna is amplified by polymerization chain reaction (PCR)
  • Genetic variations are detected by the molecular biology technique SNPE

The results are released within 10 working days in the form of a detailed report, which must be interpreted by the geneticist.

Preparation for the genetic test for DAO deficiency

People who opt for the genetic test for DAO deficiency should not keep any special diet and must have normal oral hygiene. It is recommended not to eat and brush your teeth no more than an hour before harvesting.

Genetic testing for DAO deficiency is available exclusively in the REGINA MARIA Private Health Network, through the Genetic Center Laboratories, by appointment at +40786093567.

Diaminoxidase deficiency (DAO)

This metabolic disorder can be caused by genetic, pharmacological or pathological factors, but genetic origin predominates. The disorder occurs due to a deficiency in the functional activity of the DAO enzyme located in the intestine and responsible for the metabolism and elimination of histamine from the blood.

The low activity of the DAO enzyme generates an imbalance between the ingested histamine and the ability of the enzyme to metabolize it, which increases the level of histamine in plasma and contributes to the appearance of several severe and debilitating symptoms, such as migraine, irritable bowel syndrome, fibromyalgia, atopic dermatitis, ADHD or allergic rhinitis.

The genetic test detects whether the DAO deficiency is due to the presence of genetic changes (genetic polymorphisms) helping to correctly establish the causes of the symptoms and to personalize the treatment.

As an example, there is research that highlights that in most situations, migraine is associated with DAO deficiency, so the application of the genetic test will highlight whether there is a DAO deficiency and whether this deficiency is genetically determined and will help to establish the correct treatment of people suffering from migraine.


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