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Cystic fibrosis 38 Mutation Sequencing

Known as: Mucoviscidosis
SKU: 323

1,274.00

Not in stock

Study material: Venous blood
Response time (working day): 14
The test is done on an empty stomach: no
Home call service: No.
Country: EU

General Information

Cystic fibrosis (CF) Is an inherited, autosomal recessive disease that mainly affects the lungs, pancreas and sebaceous glands. During cystic fibrosis, thick, sticky mucus is produced in the body; Recurrent respiratory infections and impaired pancreatic function are common. 38 Mutation sequencing test detects the most common mutations in the cystic fibrosis transmembrane conduction regulator (CFTR) gene (chromosome 7) to screen for CF screening, diagnostics, or disease carriers.

When should we take the test?

  • If your relatives have cystic fibrosis;
  • If your partner has cystic fibrosis (if one partner has cystic fibrosis and the other carries the defective cystic fibrosis gene, then the child will have a 50% risk of developing the disease);
  • If you are planning a pregnancy;
  • If other screening tests for cystic fibrosis have shown a positive result;
  • If you have signs and symptoms of cystic fibrosis, such as: very salty sweat, frequent respiratory infections (bronchitis or pneumonia), wheezing, shortness of breath, persistent diarrhea and / or fatty stools, weight gain and growth problems, vitamin deficiency, infertility in men.

Possible interpretation of the results

Test results should be interpreted in the context of personality traits, symptoms, and physical examination results, as well as medical and family history, ethnicity, and other laboratory test results.

Detection of two copies of gene mutations by a test Indicates a diagnostics of cystic fibrosis. The test can not predict how severe or mild the symptoms of the disease may be. People with the same mutations can have very different results.

If the test detects a single copy of the mutation or its result is negative And the person being tested has signs and symptoms of CF, Then it is necessary to conduct additional diagnostic tests. The person being examined may have a more rare form of CF that has not yet been diagnosed, such as lung or pancreatic disease or another abnormal condition. It can also be a carrier of the disease as some carriers of CF may show signs and symptoms associated with CF.

If the test reveals a single copy of the mutation and the test person has no signs or symptoms, Then it is likely that the person is a CF train.

If the test results are negative, no mutations are noted and the person has no signs or symptoms, Then it is likely that the person does not have CF and he or she is not a carrier of the disease either. However, there is still a small risk that even in the event of a negative result, a person may be a carrier of a rare mutation that could not be identified by a test.

Additional information

Cystic fibrosis is caused by mutations in a gene on chromosome 7. This gene encodes the transmembrane conductance regulatory protein (CFTR) of cystic fibrosis. CFTR functions as a chlorine channel at the apical pole of the epithelial cell membrane, participates in the regulation of sodium channels, in the transport of HCO3¯, and so on.

CFTR gene mutations can be grouped into 6 different classes based on their functional effects at the cellular level:

I class: CFTR is not synthesized;

Class II: CFTR is insufficiently processed in the cell;

Class III: CFTR does not work;

Class IV: CFTR has abnormal bandwidth;

Class V: CFTR has a partial defect in the synthesis process;

VI class: CFTR disintegrates rapidly.

Class I, II, and III mutations are more common and are associated with pancreatic insufficiency, while class IV, V, and VI mutations are more rare and in this case patients do not present with pancreatic manifestations.

The result of genetic disorders is the absence or improper functioning of chlorine channels at the cellular level, leading to altered chlorine transport in the mucous and serous glands of most organs. The resulting secretions by the glands are characterized by low water content and viscosity. They attach to the ductal epithelium and are difficult to expel. Accumulation of secretions in the body leads to dysfunction and destruction of various organs (lungs, pancreas, liver, intestines, reproductive organs).

Cystic fibrosis manifests itself in several forms, in some cases it causes premature death of children due to progressive obstructive lung disease with bronchiectasis; Sometimes the disease manifests itself in the form of pancreatic insufficiency and progressive obstructive pulmonary disease in adolescence, with an increased frequency of hospitalization in adulthood. It can also manifest itself in the form of recurrent sinusitis and bronchitis or infertility in young people.

Signs and symptoms of cystic fibrosis vary according to the severity of the disease. Even in the same person the symptoms may worsen or improve over time. Some people may not show symptoms until adolescence or adulthood. People who are not diagnosed with the disease before adulthood usually have a milder disease and are more likely to have atypical symptoms, recurrent attacks of pancreatitis, infertility, and recurrent pneumonia.

The salt content of sweat in patients with cystic fibrosis is higher than usual. Parents can often even feel the taste of salt when kissing their children. Most of the other signs and symptoms of CF are related to the respiratory and digestive systems.

Respiratory signs and symptoms

Thick and sticky mucus associated with cystic fibrosis blocks the bronchi, which can cause signs and symptoms such as:

  • Persistent, productive cough with thick sputum;
  • wheezing
  • Intolerance to physical activity;
  • Recurrent lung infections;
  • Inflammation of the nasal cavity or a stuffy nose;
  • Recurrent sinusitis;

Signs and symptoms related to the digestive system

Thick mucus can also block the ducts that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes, the intestines will not be able to fully absorb the nutrients in the food, which often results in:

  • Unpleasant-smelling, greasy stools;
  • Problem of weight gain and growth;
  • Intestinal blockage, especially in newborns;
  • Chronic or severe constipation, which, due to constant tension during defecation, can cause a part of the rectum to fall out of the anus - rectal prolapse.

Cystic fibrosis requires consistent, regular supervision by a physician at least once every three months.

If you or your partner have close relatives with cystic fibrosis, you may have a genetic test before the baby is born. The test can help you determine the risk of having a baby with CF.

Before you decide to get tested, consult a geneticist.

How to prepare for the test?

No special preparation is required for the test.

Testing process

Purchase a test Submission of material

Purchase a test

Submission of material

Results Online Consult a doctor

Results Online

Consult a doctor

Resources

Cystic Fibrosis (CF) Gene Mutations Testing

Chemical fibrosis - 38 mutations CFTR

https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

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