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Lactose intolerance
Genetic testing for lactose intolerance
Lactose intolerance is a genetic disorder. It is a partial or complete inability of the digestive tract to process lactose, or milk sugar, which is found in milk, dairy products and other foods, leading to a range of digestive problems. Lactose intolerance affects a large proportion of the adult and child population. You can easily find out if you are one of them by genetic analysis.
IN WHICH SITUATIONS IT IS APPROPRIATE TO TAKE THE TEST
FAMILY MEDICAL HISTORY
Prevalence of the disease in the family.
MANIFESTATIONS OF INTOLERANCE
You suffer from some of the symptoms of lactose intolerance.
MEDICATION USE
Some medicines may contain lactose.
DIAGNOSTIC UNCERTAINTY
You are following a diet without being diagnosed.
PUBLIC HEALTH INSURANCE COVERS THE TEST IN THE FOLLOWING SITUATIONS
Examinations covered by public health insurance are indicated by the attending physician based on your personal and family medical history.
DETAILED INFORMATION
Lactose intolerance means that the body's ability to process milk sugar - lactose - is impaired. This is due to insufficient amounts of the digestive enzyme lactase which is responsible for the breakdown and subsequent absorption of milk sugar in the small intestine. The unbroken and unabsorbed milk sugar then causes digestive problems in the digestive tract, most commonly manifested as bloating, abdominal pain and diarrhoea. Less common symptoms include heartburn, atopic eczema and headaches.
Primary lactose intolerance is caused by a genetic reduction in the activity of the lactase enzyme. It can occur at any age and to the same extent in both men and women. In the Caucasian population, the prevalence of lactose intolerance is up to 36%. Secondary lactose intolerance can arise from another intestinal disease, e.g. celiac disease, Crohn's disease, etc.
The spectrum of problems and their intensity is individual, so it is sometimes difficult to make a correct diagnosis. If you suffer from digestive problems and the cause of your difficulties has not yet been identified, it is advisable to undergo genetic testing for lactose intolerance. Genetic analysis can reveal the polymorphisms of the LCT gene that underlie lactose intolerance.
You will receive the result within 10 working days.
HOW DOES THE WHOLE PROCESS WORK?
After ordering the test, you will receive an email with detailed information. A DNA sample is most often obtained through an oral swab or blood sample. You can perform the oral swab yourself in the comfort of your own home using a collection kit which will be sent to you by mail together with instructions and other documents. You can have your blood drawn at your local physician's office or at our outpatient clinic. The result of the analysis will be sent to you by e-mail or by post as agreed. In the case of a positive result, we recommend an appointment for a genetic consultation.
How does the whole process work?
1
Ordering
Choose a specific test or make an appointment for a genetic consultation.2
Sampling
A sample of your DNA is most often obtained through an oral swab or blood sample.3
Analysis
Our team of experienced professionals will analyse the sample using the latest methods and technologies.4
Result
After the test has been evaluated, you will receive a detailed and easy-to-understand laboratory report, or a consultation with a clinical geneticist will be recommended.
Lactose intolerance
Lactose intolerance is a genetic disorder. It is a partial or complete inability of the digestive tract to process lactose, or milk sugar, which is found in milk, dairy products and other foods, leading to a range of digestive problems. Lactose intolerance affects a large proportion of the adult and child population. You can easily find out if you are one of them by genetic analysis.
Fructose intolerance
Fructose intolerance is a relatively rare but very serious inherited disease in which the body is unable to metabolize fructose, or fruit sugar, leading to a number of problems, not just digestive ones. Genetic analysis is an easy and affordable way to find out whether your digestive problems are caused by fructose intolerance or whether you have a hereditary predisposition to it.
Histamine intolerance
Histamine is a naturally occurring chemical in the body. It is found in large quantities in some foods, where it forms as a result of the ripening and fermentation process. If you suffer from repeated digestive problems after eating certain foods, or if someone in your family has been diagnosed with the disease, a genetic analysis will confirm or refute whether you are predisposed to histamine intolerance (HIT). In the case of a proven predisposition, a low-histamine diet will help to eliminate the difficulties.
Celiac disease
Celiac disease, or gluten intolerance, is a genetic autoimmune disease. Gluten is a component of most cereals and foods made from these cereals. In people with celiac disease, gluten causes inflammation of the small intestine lining, reducing its ability to digest and absorb nutrients. Genetic analysis will reveal whether you have a predisposition to the disease, or it may help to make a final diagnosis.
Gilbert's syndrome
A genetic test that can show the predispositions for Gilbert's syndrome or find out the cause of your problems. Gilbert's syndrome (GS) is an inherited disorder of bilirubin (bile pigment) metabolism. It is characterized by a slightly elevated level of bilirubin in the blood without signs of liver disease. In a ratio of 4:1, it is more common in men.
Hereditary haemochromatosis
Genetic testing that can confirm a diagnosis of the disease or detect a risk mutation in healthy individuals, which puts their offspring at increased risk of developing haemochromatosis. Haemochromatosis is a hereditary disease characterised by excessive absorption of iron from the digestive tract and its deposition in various organs, especially the liver, pancreas, heart, pituitary gland, joints, skin and genital organs, leading to severe and irreversible damage over time.
Wilson's disease
Genetic testing that can confirm the diagnosis at the DNA level. It will allow the detection of healthy carriers who are at increased risk of developing Wilson's disease in their offspring. It is an inherited metabolic disease caused by a genetic defect in an enzyme that transports copper in the body, leading to excessive copper accumulation, especially in the liver and brain, which causes subsequent damage.
Crohn's disease
Genetic testing which can show the predispositions for Crohn's disease or identify the cause of your digestive problems. Crohn's disease is a chronic inflammatory disease of the digestive tract. The most commonly affected area is the small and large intestine.
Pancreatitis
Genetic testing that can show the predispositions for pancreatic disease or identify the cause of your problems. Pancreatitis is an inflammatory disease of the pancreas. Genetic predispositions combined with lifestyle, especially alcohol consumption, smoking, obesity and poor dietary habits, are the main causes of a rare form of chronic pancreatitis.
Frequently Asked Questions
The time required for the laboratory examination (sample analysis) and the delivery date of the result vary according to the type and complexity of the examination. Usually it is in the order of weeks, for complex tests up to several months. The delivery date of the result is indicated in the details of each test on our website. In urgent situations, e.g. for a woman with a newly diagnosed breast or ovarian tumour before surgery, the oncopanel cancer test is performed in STATIM mode and the result is available within 3-4 weeks, whereas in normal mode it takes up to 6 months.
Health insurance always covers genetic consultations recommended by the attending physician (usually a general practitioner, paediatrician, oncologist, gynaecologist or other specialist). During the consultation, a clinical geneticist will assess whether the indication criteria for testing for the predisposition genes are met; if so, the entire genetic test, including laboratory analysis of the sample and subsequent consultation with the geneticist/doctor, is covered by health insurance. If the criteria for the genetic testing are not met, the patient can pay for the selected/recommended test as a self-payment.
After making an appointment, first fill out our personal and family history questionnaire HERE on our website. This is followed by a consultation with a doctor who will compile your three-generation family tree and decide on the indication for laboratory genetic testing. We also recommend that you bring medical reports from recent important examinations.
Recommendation – a referral from the doctor who recommended the genetic consultation. Medical reports from previous examinations related to the requested genetic test. It is not necessary to be fasting for the genetic examination, so you can easily make an appointment in the afternoon. Do not forget to fill out online genetic family and personal history questionnaire before your visit, which you can find HERE.
It has been reported that approximately 5-10% of cancers are caused by inborn changes in certain genes. One of the main goals of predictive genetic testing is the early identification of people at risk. If risk predispositions (gene mutations) are detected, preventive follow-up at specialised centres is recommended, where possible cancers are detected early and the chances of successful treatment are increased. In the case of high-risk mutations, preventive surgery may be recommended to make the risk of cancer in a given organ virtually impossible (for example, removal of the breast glands or removal of the uterus and ovary in BRCA1 or BRCA2 mutation carriers).
If your first-degree relative (parents, siblings, children) develops colon cancer before the age of 45, your risk of developing this cancer is 5 times higher. If you have three first-degree relatives, your risk can be as high as 50%. In families with a history of recurrent bowel cancer or with a history of bowel cancer at a young age, it could be hereditary cancer syndrome (Lynch syndrome). In such cases, genetic consultation is recommended.