The site is temporarily down due to maintenance. Sorry for the inconvenience.
The site is temporarily down due to maintenance. Sorry for the inconvenience.
Quality & Accuracy
Experience
The latest technologies
Speed &
Credibility
₾1,274.00
Not in stock
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.
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.
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:
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:
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 |
Results Online |
Consult a doctor |
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
More than 1000 routine and complex/specific diagnostic tests in all major areas of clinical pathology.
53 laboratory centers in 25 cities of Georgia: Tbilisi, Rustavi, Kutaisi, Batumi, Marneuli, Telavi, Zugdidi, Zestafon, Gori, Kobuleti, Akhaltsikhe, Khashuri, Sartichala, Kazbegi, Borjomi, Samtredia, Gurjaani, Lagodekhi, Akhmeta, Ozurgeti, Poti, Chiatura , Kabali village, Dusheti, Kareli, Tianeti.
Use the Synevo web platform to view results from anywhere and anytime
Use the Synevo web platform to view results from anywhere, anytime
From Monday to Saturday you can use the laboratory services at home.
☎️ Hotline: 239 38 33 or 239 40 65
577293008 (9:00-დან 17:00-მდე)
30 laboratory centers in 11 cities of Georgia: Tbilisi, Kutaisi, Batumi, Kobuleti, Zugdidi, Zestaponi, Rustavi, Marneuli, Akhaltsikhe, Telavi, Gori.
More than 3000 routine and complex / specific diagnostic tests in all major areas of clinical pathology.
"Synevo" - Providing a wide range of diagnostic services in Georgia, offering more than 1,000 routine and specific diagnostic tests in all major areas of clinical pathology. By the end of 2024, the Synevo Georgia network will include 3 clinical laboratories and 53 blood sampling units, which will perform more than 300,000 tests.
Contact information
Address: Tsinandali St. N9 (N1 Clinical Hospital area)
2021 – 2024 © Synevo. all rights reserved