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GENETIC EXAMINATIONS GENETIC EXAMINATIONS

Genetic examinations performed with PCR methods consist in disclosing of a searched pathogen in the sample of the genetic material. The examination can be done faster than using  the so-called traditional methods, where antibodies produced by the oganism as a response to a specific pathogen are detected. Therefore, the PCR methods enable obtaining a reliable result in a short time.

 

The examinations are performed for the following pathogens:

1. blood plasma obtained in a routine blood clotting test

2. blood plasma obtained by collecting the material to an EDTA tube

4. urine collected to a sterile container after special preparation of the patient to the examination

6. examination with the use of full blood collected into an EDTA tube

7. smear taken with a SWAB kit, available in the laboratory

8. smear taken with a Paternity SWAB kit, available in the laboratory

9. blood obtained with the use of a MATRIX kit, available in the laboratory

Examinations

  • Chlamydia trachomatis: serotypes A-K  and L-1 – L-3. Serotypes A, B and C cause directly transmitted chronic conjunctivitis and corneitis, often leading to blindness. Serotypes D – K produce inflammatory conditions  of sexual organs, urethritis, cervicitis and salpingitis. They may also cause conjunctivitis and lung disorders in neonates and infants, acquired in the birth canal. Serotypes L-1 – L-3 are responsible for inguinal granuloma – a sexually transmitted disease producing such symptoms as ulceration in urogenital region and painful swelling of lymph nodes.

The material for the examination is obtained from a swab collected from the sites where pathological changes appear. Specific Chlamydia transport medium should be used.

  • HPV: virus of human papilloma is widely spread, as there are more than 100 types of HPV virus. Infection with HPV virus is most common among people aged 18 – 28. In the majority of cases the  infection is self-limiting, but  sometimes cervical cancer may develop. It has been proven that there is a relationship between cervical cancer and an infection with HPV virus of human papilloma.

Basic material for the examination is swab. A special swab kit with transport medium is used for that type of test. The examination is performed to reveal the presence of highly oncogenic types of virus, such as HPV16, 18, 31, 33, 35, 39, 45, 52, 56, 58, 59, and 66.

  • Mycobacterium tuberculosis: detection of tubercle baccilli. It is a qualitative test in which a sequence of genetic material is established
  • Toxoplasma gondi: the infection results from eating invasive forms of the parasite present in cat faeces, or cysts present in raw meat. Antibodies develop immunity to toxoplasmosis. Congenital toxoplasmosis may be dangerous. When the infection takes place during pregnancy, the disease is passed on to the developing foetus through placenta. The resulting foetal abnormalities can cause abortion. Children who survived have severe eye and nervous system abnormalities. Detection of a pathogenic agent is becoming more and more important, especially in the case of patients whose immunity is lowered. 
  • Borrelia burgdorferi: the infection is transmitted by ticks. In the course of borreliosis or lyme disease there are three stages: stage 1 – early infection – appears several weeks after being bitten as as rash called erythema migrans at a site of a tick bite and is characterized by such symptoms as fever, headache, muscular pain and enlarged lymph nodes. In stage 2 – a few months after infection – there may be meningitis, facial nerve paralysis or - rarely - myocarditis.
  • Cytomegalovirus: the virus is transmitted to the infant at delivery from contact with genital secretions and through breast milk, also during blood transfusion, via respiratory droplets  or through contact with an infected person . Infections are often asymptomatic or flu-like, except in people with abnormalities of the immune system or lowered immunity.
  • HSV-1 and HSV-2 : diagnostics of infections with herpes viruses. Infections with HSV-1 and HSV-2 are very common and widely spread. The infection produces recurrent vesicular changes on the skin and mucous membranes. HSV-2 infects the genital area and it is most often transmitted through sexual intercourse. HSV infection may be dangerous for pregnant women because the neonate is likely to be infected with the virus at delivery.
  • Adenoviruses are widely spread and they usually cause an infection which is asymptomatic or gives mild respiratory, digestive and urinary manifestations. Conjunctivitis may be the most severe symptom. Adenoviruses are not dangerous for people with the normal function of the immune system, but they can cause a serious problem for those taking an immunosuppressive therapy.
  • HBV (quantitative determination): diagnostics of infection caused by hepatitis B virus. The virus multiplies in the liver cells and the free viral copies are detected in the blood of an infected person. The HBV infection can be acute, but it can also take a course with very few symptoms or no symptoms at all. In such cases a laboratory test is the only evidence of infection. Chronic hepatitis B infection may lead to cirrhosis or neoplasm of the liver when it is  untreated. The result of the test is given in the form of a statement whether the virus was detected in the material or not.
  • HBV (qualitative determination) – see above. The result of the test gives the number of copies in genome per an international volume unit.
  • HBV ( qualitative determination + drug-resistance) – see above. The result of the test is given in the form of a statement whether the mutant virus resistant to lamivudine was detected in the sample or not. It is possible to carry out the test only when the result is positive, i.e. when the virus is present in the sample.
  • HCV ( qualitative determination): diagnostics of hepatitis C infection. Presence of genetic material (RNA virus) is a strong evidence that the infection is present and there is a possibility of passing it on to other people. Hepatitis C infection is often asymptomatic which favours the spread of the disease. Therefore, early diagnosis of the disease is crucial as it enables physicians to start treatment. The result of the test is given in the form of a statement whether RNA virus was present in the material or absent.
  • HCV ( quantitative determination): see above. The result of the test gives the number of copies in genome per an international unit.
  • HCV (quantitative determination + genotyping): see above. The result of the test gives information about virus genotype present in the sample. The test can be carried out only when the result is positive, i.e. when the virus is present.
  • EBV – Epstein-Barr virus – causes infectious mononucleosis, commonly known as glandular fever. EBV is widely spread in the population. It is transmitted by air droplets. The infection is often asymptomatic and the presence of the virus in the organism may remain lifelong. The most characteristic symptoms are enlarged lymph nodes of the neck and a sore throat. The manifestations are often accompanied by fever.
  • B-19 parvovirus causes a mild children’s ailment manifesting with rash and increased body temperature. In adults it may result in atypical inflammation of the joints, sometimes accompanied by vasculitis or peripheral neuritis. The virus is dangerous in the first trimester of pregnancy because it can infect the foetus through the placenta, which may lead to abortion.
  • CMV cytomegaly virus is very common. The infection usually takes a latent course. CMV virus is dangerous for women during the first trimester of pregnancy. At that time, both primary infection and reactivation of the virus carry increased risk of complications, which may result in congenital cytomegaly or even foetal death. The result of the test gives the number of copies in the genome per an international volume unit.
  • BECA1 gene: presence of mutations in BRCA1 gene seriously increases the risk of breast and ovarian cancer. The test for BRCA1 gene mutations is especially recommended for  women with the family history of that type of cancer. The detection of mutations cinfirms the patient’s succeptibility to breast and ovarian cancer and is an indication to more frequent check-ups, as well as avoiding such risk factors as cigarette smoking and hormone replacement therapy.
  • HTGR examination reveals mutation in repair protein-coding genes which increases risk of such neoplasms as pancreatic, colon, breast, ovarian, prostate cancer and melanoma. Hormone replacement therapy is also one of risk factors.
  • Haematochromatomosis is a genetically conditioned disease which leads to cirrhosis of the liver and damage to other internal organs if it is left untreated. The disease consists im formation of iron deposits, especially in the liver and the pancreas. Diagnostics of predispositions to haemochromatomosis is possible only with molecular methods.
  • Mucoviscidosis is a genetically conditioned systemic disease in which excessive viscous mucus is produced, causing dysfunction of organs containing mucous glands. Mucoviscidosis affects mostly the respiratory and  digestive systems. The patient’s lifespan and quality of life depend on early detection and proper treatment of the disease. Diagnostics of genetic predispositions to mucoviscidosis with molecular methods enables making diagnosis and determining the risk of passing on the predisposing gene to the  child.
  • Alzheimer’s disease (Apo E genotyping): the examination discloses the form of a gene predisposing to Alzheimer’s disease and sclerotic diseases, such as hyperlipoproteinemias and hypercholesterolemias.
  • Parkinson’s disease: the examination discloses the form o thegene predisposing to Parkinson’s disease. The mutation test is advised for people with the family history of Parkinson’s disease.
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(032) 781-45-52
DR N. MED. TERESA FRYDA LABORATORIUM MEDYCZNE      40-064 KATOWICE, UL. MIKOŁOWSKA 53
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