DNA Test for Gilbert Syndrome
Gilbert Syndrome (benign indirect hyperbilirubinemia) is a hereditary genetic disorder that disrupts bilirubin metabolism in the body. It is inherited in an autosomal recessive manner. For the pathological gene traits to manifest, the mutant recessive allele must be inherited from both parents.
For bilirubin metabolism, the liver produces the enzyme UGT (uridine diphosphate-glucuronosyltransferase). It binds bilirubin with glucuronic acid, forming a water-soluble form that is easily excreted with bile.
In people with Gilbert Syndrome, the activity of the UGT enzyme is reduced by about 25%, leading to an increased level of free bilirubin in the body. The pathology usually manifests between the ages of 16 and 28. According to statistics, it occurs in 3-10% of people worldwide, with men being affected 4 times more often than women.
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+375 293 206 979The main symptom of this disease is the «yellowing» of the whites of the eyes and the skin. Patients may also experience the following symptoms:
Related to the central nervous system:
- Chronic fatigue;
- Dizziness;
- Headaches;
- Insomnia;
- Difficulty concentrating and memory problems;
- Irritability;
- Panic attacks;
- Depression.
Related to the gastrointestinal system:
- Pain on the right side near the lower rib;
- Heartburn;
- Nausea;
- Irritable bowel syndrome;
- Food intolerances;
- Flatulence;
- Loss of appetite.
Symptoms may start to appear only after the age of 20-23.
At birth, attention should be paid to prolonged physiological jaundice in newborns — this may indicate a genetic disorder.
Cases of Gilbert’s syndrome are often discovered during the diagnosis of other CNS and gastrointestinal diseases.
The studied genes
The activity of the enzyme UGT1A1 is controlled by the UGT1A1 gene. It is located on the long arm of chromosome 2. Normally, the gene has 6 TA repeats in the promoter region. When a mutation increases the number of TA repeats to 7 or 8, the expression of the UGT1A1 gene decreases. This leads to a deficiency of the enzyme uridine diphosphate glucuronosyltransferase (UDPGT).
The DNA test for Gilbert’s syndrome includes an analysis of the promoter regions of the UGT1A1 genes on both chromosomes of the second pair. If an increase in the number of TA repeats to 7 or more is found in both alleles, the syndrome is considered confirmed.
Since the disorder is genetic and can be inherited, testing is recommended in the following cases:
- Parents or close relatives have been diagnosed with Gilbert Syndrome;
- A sharp increase in bilirubin levels up to 100-140 µmol/L during fasting, physical exertion, or infectious diseases;
- Toxic reactions after using antitumor drugs and glucocorticoids, as UGT is also involved in the metabolism of these medications.
Remember that with autosomal recessive inheritance, the disease may not manifest for several generations.
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How to Do a DNA Test for Predisposition to Gilbert’s Syndrome?
For genetic analysis, samples of buccal epithelium (oral swab) or venous blood in the amount of 5–10 ml are used.
Venous Blood
For blood collection, a vacuum tube with a purple cap is required. The tube must contain Ethylenediaminetetraacetic acid (EDTA) of type K1, K2, or K3. The blood volume should be from 2 ml to 6 ml. Using two tubes is allowed.
The collection is performed with the patient in a sitting position. Blood flow should go directly into the tube. After the procedure, shake the tube 5–6 times to mix the blood with EDTA.
Buccal Epithelium
To provide a buccal epithelium sample, you can visit a specialist at a biomaterial collection point or perform the sampling yourself at home. For this, you will need:
- cotton swabs — at least 2, preferably 4;
- a clean paper envelope — 1 piece;
- a pair of sterile disposable gloves — 1 pair.
Alternatively, you can order a free kit by phone from our DNA center, which contains everything necessary. See the detailed instruction with video: How to Take a Sample.
How long does it take?
The turnaround time for the analysis is 5 business days from the moment the samples arrive at the laboratory.
The day of sample delivery is not counted, as all samples first go through a registration process before being forwarded to the genetic specialists.
How to Receive the Report
You can receive your DNA test results in any convenient way:
- Electronically via email;
- In person at the biological sample collection point;
- By delivery through Belarusian Post;
- By courier delivery to your door;
- By phone (if you have a unique order number, and the phone number is authorized to receive verbal results).
The method of result delivery is selected when placing the order for the analysis.
Where to get a DNA test for Gilbert's syndrome
Take a DNA test for Gilbert's syndrome
- You can use the form «Pre-appointment» to schedule an appointment or come to our genetic center at any time convenient for you.
See step-by-step instructions see here. - Do it yourself at home:
- Order by courier our branded kit, specially designed for self-collection of DNA samples.
- Using ordinary cotton swabs (ear swabs) from a pharmacy. Our instructions.
- Order a specialist visit to your home for free.
Why the DNA Center «DTL» is the Best in Brest
How to pay for a DNA test for Gilbert's syndrome
For your convenience, there are several options for cash and non-cash payment of the DNA test:
- At our DNA centers, by cash or bank card.
- Online payment on the website of our DNA center.
- At bank branches.
- By bank transfer (for legal entities).
When filling out the application for a DNA test, you can choose how to receive the genetic test results:
- In person at the DNA center.
- By the email address you specified in the application form.
- By courier service across Belarus.
- If you have taken a legal (court-ordered) DNA test, we can send the forensic genetic report to the court’s address.
- If you require another method of delivery, you can specify it in the application form.
Each order is assigned a unique identification number. The laboratory guarantees 100% security and confidentiality of all data received from you.
What should I do if the test is positive?
A positive test result indicates the presence of a pathological gene variant that increases the risk of developing a malignant tumor. This should not be viewed as a sentence. A DNA test is conducted to provide early awareness of potential cancer development.
However, there is a possibility that cancer has already begun to form. In such cases, DNA testing serves as one of the diagnostic tools at the earliest stages of the disease.
If the result is positive, it is important to:
- Consult an oncologist with your DNA test results;
- Undergo additional diagnostic procedures: X-ray imaging, cytological examinations, laparoscopy and thoracoscopy, biopsy of tumor tissue.
These investigations will help the oncologist accurately determine the stage of cancer and whether metastases are present. By combining this information with family history and DNA analysis results, appropriate treatment can be prescribed.
A comprehensive approach is typically used, combining surgery with chemotherapy or radiation therapy. The treatment plan and type of therapy are determined solely by the attending physician.
DNA Test for Predisposition to Gilbert’s Syndrome
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The «DTL» DNA Center conducts DNA testing throughout the entire Belarus. The laboratory uses equipment from Applied Biosystems, a global leader in biotechnology. Modern scientific and technological advancements enable us to perform unique DNA tests that are offered by only a few laboratories worldwide. All tests are carried out exclusively by certified specialists, including world-class experts with over 15 years of experience in DNA research.
Our center has offices in many cities across Belarus, making it possible to submit samples in virtually any city, including smaller towns across the country.
