The PZU Mehmedbašić laboratory for genetics has begun with its work. The laboratory is equipped with the most contemporary technology in the field of molecular biology (PCR – polymerase chain reaction for production of DNA copies with fluorescent primers and capillary electrophoresis) and we are able to offer our patients different molecular diagnostics services. The tests used are very sensitive, precise and provide rapid results. The following tests are performed in the Mehmedbašić Institute:
Prenatal diagnosis of genetic disorders
The test is performed on a sample of the amniotic fluid (also umbilical cord blood, chorionic villus and abortion material sampling). The Mehmedbašić Institute has been performing the cytogenetic analysis of amniotic fluid (complete karyogram) for ten years now. Nowadays, thanks to the above mentioned technologies, we are able to offer our patients “rapid early amniocentesis”, because the results can be obtained within just two days. The QF PCR test is used to determine whether a fetus has developed Down, Edwards or Patau syndrome, change in number of sex chromosomes (Klinefelter and Turner’s syndrome), and XXX and/or XYY change.
There are indications for the classic early amniocentesis (karyogram), and also for the QF PCR test, and both have their own advantages.
Indications for early amniocentesis:
- Pregnancy in age 35, and older
- Unsatisfactory ultrasound markers
- High risk biochemical tests
- Recurrent miscarriages
- Family history of genetic disorders
- Exposure to chemical or biological agents which can cause DNA alterations
Advantages of the QF PCR:
- Rapid results (within two days, whereas it takes 20 days for the cytogenetic analysis)
- No chance of mixing the mother’s genetic material and that of female fetus
- Less amount of amniotic fluid is required for analysis (3 to 5ml, whereas average amount for cytogenetic analysis is 15 to 20ml)
- It can be done even after 20 weeks of pregnancy
- It is cheaper than the cytogenetic analysis
- Inadequate transport, sample contamination or cell culture problems are not that important in this test
Disadvantages of the QF PCR:
- It does not provide diagnosis of structural chromosomal aberrations
Indications for QF PCR:
- When rapid results of the fetal genetic disorders analysis are required (medical or personal)
- Pregnant women under the age of 35, who have not experienced miscarriage, or other indications for cytogenetic analysis
- Other indicators
Advantages of the cytogenetic analysis:
- Completeness: the QF-PCR test can detect usual alterations in the number of chromosomes, whereas cytogenetic analysis detects changes both in the chromosome number and its structure, i.e. it is used for production of fetal karyogram.
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Amniotic fluid sampling for the classic cytogenetic analysis can be used in both of the aforementioned tests. The QF-PCR test results are obtained within two days (rapid early amniocentesis), and cytogenetic analysis results within 15 to 20 days, i.e. complete karyogram.
What does the combination of the two tests provide?
When these two are used in combination, the results are 100% reliable, regardless of inadequate transport, sample contamination or cell culture problems.
Prices:
- Cytogenetic analysis (karyogram) with amniotic fluid sampling – KM 500.00
- QF-PCR test (rapid early amniocentesis) with amniotic fluid sampling – KM 350.00
- Both methods of early amniocentesis combined – KM 750.00
Karyotype
Indications:
- Recurrent miscarriages
- Inherited and recurrent fetal abnormalities
- Marital infertility
- Obstructive Azoospermia
- Certain fetal karyogram results that require karyogram test in one or both partners to be performed
Here, the blood is subject to testing (5ml, heparin). In case the blood sample cannot be delivered on the day of withdrawal, it must be kept and transported at temperature of 20°C.
The test results are obtained within 5 days. The price is KM 250.00.
Thrombophilia testing
This test is used to detect mutations on the three genes that cause thrombophilia.
Indications:
- Recurrent pregnancy loss in early stages
- Recurring failures in IVF
- History of venous thromboembolism (e.g. family history)
Genes subject to analysis:
- Factor V Leiden (R506Q)
- Factor II Prothrombin (20210A)
- MTGFR (C677T)
Blood sample is taken for the analysis – 2ml of blood, EDTA. The sample should be kept and transported at temperature of 2 – 8 °C and delivered within 6 hours upon withdrawal.
The results are obtained within 5 days. The price of the test and results interpretation is KM 250.00.
Detection of microorganisms
Samples are tested using Real Time PCR for the presence of pathogenic microorganisms. This procedure is much more sensitive than the cell culturing or other methods, which often result in large numbers of false negatives. Samples are tested for the presence of STD agents:
- Human papillomavirus (HPV) – causes cervical canceChlamydia trachomatis
- Mycoplasma genitalium
- Hepatitis B/C, HIV
- TORCH
- MRSA
HPV
HPV test is performed as to set the actual diagnosis for cervical cancer. If Pap smear shows alterations on the cervical cells, HPV test must be performed. If the HPV test is negative, there is less possibility that alterations on the cervical cell indicate to cancer. The Mehmedbašić Institute offers the following tests:
a) HPV screening
b) HPV genotypization
a) HPV screening is used to test the samples for HPV presence, with either negative or positive results. The PCR test in relation to standard hybridization methods (Hybrid Capture) is better because it is more sensitive and accurate. It can detect 500 virus copies per 1ml. Besides, the screening uses human gene primers as a mean of internal control of the test results. Furthermore, apart from its sensitivity, it is impossible to get positive or false negative results when using this test.
b) HPV genotypization is a special test used for detection of HPV genotype, which is considered a medium- or high-risk virus. It has been established that HPV type 16 and type 18 have the highest oncogenic potential and that they cause about 70% of cervical cancers. Number of copies also amounts to 500 copies of HPV DNA per 1ml. Internal control is also provided.
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We are not disposing of the sample used in HPV screening once the test is finished. In case test results are positive, the sample is used for HPV genotypization as well. In that manner, a patient is provided with a full HPV analysis, upon which further medical procedures can be determined.
Indications to HPV analysis:
- Suspicious pap smear results
- Colposcopy cervical pathology
Getting samples for both of the above mentioned tests is simple and painless. After collecting a sample of cells from the cervix, a plain cotton ear bud is used and sample for HPV testing is taken by rotating the bud three times in the counter clockwise direction. It takes about two minutes for the bud to dry out, before it is placed into a test tube and taken to the laboratory. In men, the sample can be taken from the urethral swab or semen.
Results are obtained within 5 days.
Prices:
- HPV screening – KM 120.00
- HPV genotypization – KM 170.00
- HPV screening + HPV genotypization – KM 170.00
Chlamydia trachomatis
Chlamydia trachomatis is an obligate intracellular parasite – incapable of reproducing outside the cells of a host. It is transmitted through sexual contact. It affects around 4% of the population, and is considered one of the most common sexually transmitted pathogens.
Symptoms
Chlamydia symptoms are absent in around 75% of women and 50% of men, which is the reason why the infection remains unknown and untreated, providing conditions for disease spreading. Chlamydia may cause different diseases in both men and women. In men, it causes urogenital infections. In women, it can infect the ovaries and cause chronic pelvic disease, which can lead to damage of the fallopian tubes and cause infertility. In pregnant women, it can provoke premature births. Chlamydia is a nasty disease, because it causes no symptoms and therefore the infection is easily spread.
Diagnosis
The Mehmedbašiæ Institute uses DNA, i.e. PCR tests, to detect Chlamydia. This test is much more reliable than the cell culturing, which results in large numbers of false negatives.
Indications:
- The first gynecological exam
- Initial stage of pregnancy
- The first examination for infertility causes
- Recurrent miscarriages (especially in the 2nd trimester)
- Prior to IVF
- Prior to HSG
- Prior to abortion
Taking samples
In women, cervical or vaginal swab can be taken for the analysis. Once it is withdrawn, the sample must dry out for two minutes. In men, urethral swab, semen, or morning urine are used as samples.
PCR for Chlamydia can also be performed on blood samples – 3ml, in tubes with EDTA, transported at room temperature within 6 hours.
Results are obtained within 5 days.
The price of the set, including Mycoplasma genitalium and Ureaplasma ureliticum, is KM 80.00, whereas each test individually costs KM 50.00.
Mycoplasma genitalium
Mycoplasma genitalium (mycoplasma) is a parasite similar to bacteria living in the cells of the genital tract of both women and men. It is transmitted through sexual contact.
Symptoms
Presence of mycoplasma is not always followed by symptoms, but in time certain problems might occur due to the increased number of this pathogen and/or weakened immune system. Mycoplasma is the most common cause of urethritis in men, and vaginitis and cervicitis in women. If not treated, the infection can cause pelvic inflammatory disease and infertility, as well as premature births in pregnant women.
Diagnosis
The most reliable way of detecting Mycoplasma genitalium is DNA PCR test, because this bacterium cannot be easily grown on laboratory media. Testing is recommended to persons with symptoms of STDs and couples who experience fertility problems and recurrent premature births or miscarriages.
PCR test is used to detect the presence of this pathogen.
Specimen analysis
In women, cervical or vaginal swab is taken, which must be held in open air for about two minutes to dry out. In men, urethral swab, sperm or morning urine can be taken for sampling.
Indications:
- The same as in Chlamydia Trachomatis
Test results are obtained within 5 days.
Both tests combined (Chlamydia trachomatis and Ureaplasma urealyticum) cost KM 80.00, and the price of one test is KM 50.00.
Ureaplasma urealyticum
Ureaplasma urealyticum (Ureaplasma) is a bacterium with no cell wall, which cannot survive outside the host’s cell. It is transmitted through sexual contact with an infected person. Ureaplasma forms part of the usual genital tract flora in both men and women, which can be found in ca 70% of sexually active individuals.
Symptoms
Symptoms of ureaplasma are not always visible. If the infection is not detected and treated, in time it can cause sterility, recurrent miscarriages, and reduce sperm number and motility in men.
In pregnant women, this bacterium can cause miscarriage, birth of a dead child or underweight babies. Vaginal infection in pregnant women, due to aspiration during labor, can cause respiratory problems in newborns.
Diagnosis
The PCR test can easily detect this bacterium. The test is very reliable because it detects even the smallest concentrations of the bacterium. Other tests which use cervical and vaginal swab samples for cell culturing are not as efficient. The PCR results are not only exact, but they are also more quickly obtained.
Indications:
- The same as in Mycoplasma genitalium and Chlamydia trachomatis
Specimen analysis
In women, cervical or vaginal swab can be taken for analysis. Once they are taken, they must be dried out for about two minutes in open air. In men, urethral swab, sperm and morning urine are taken for the analysis.
The results are obtained within five days.
Both tests combined (Chlamydia trachomatis and Mycoplasma genitalium) cost KM 80.00, and the price of one test is KM 50.00.
Hepatitis B/C/HIV
Hepatitis C and B cause inflammations of the liver (acute and chronic diseases of the liver, 70% cases of liver cirrhosis and 80% cases of liver cancer).
The HB virus – parenterally transmitted, with the incubation period between 45 and 160 days. The symptoms are usually absent or not very strong, and liver damage often occurs before the virus is even detected.
The HC virus – parenterally transmitted, with the incubation period between 14 and 180 days. The symptoms are usually absent or not very strong, and liver damage often occurs before the virus is even detected. There is no vaccine.
HIV – incubation period ranges between 6 months to several years. The symptoms are weak until its progressive stage.
Hepatitis B/C and HIV are transmitted via sexual contact, through blood or vertically, from mother to fetus, intrauterinally, or after the birth.
Diagnosis
The Mehmedbašić Institute offers PCR services for detection of Hepatitis B, C and HIV. This is a very sensitive test which allows detection of causative agents in all stages of the disease. PCR tests are excellent when it is important to detect the presence of viral DNA in a fast, precise and safe manner.
Indications:
- Pregnancy – routine exam
- Prior to IVF
- Prior to abortion
Specimens for Hepatitis B/C and HIV: blood sample in EDTA tubes, which must be delivered to the laboratory within 6 hours from withdrawal, and kept at room temperature.
The results are obtained within five days.
The price of the set is KM 80.00, and separately, KM 50.00.
TORCH
TORCH is a medical acronym for a set of perinatal infections. These include: Toxoplasma gondii, Rubella, Cytomegalo virus, Herpes simplex virus. It is a group of viral, bacterial and protozoal infections, which an infected mother transmits via placenta to fetal bloodstream, causing severe fetal anomalies or miscarriages. Particular danger lies in the fact that pregnant women often have this infection without any symptoms whatsoever.
Diagnosis
The advantage of the PCR test for detection of TORCH infections in relation to standard immunology tests is its sensitivity to react to DNA causative agents. PCR detects the presence of DNA causative agents. The test is very sensitive, and it is used to check the presence of TORCH infections. Serological tests that have been used before detect antibodies for a certain causative agent, but they cannot give exact results as to whether the antibodies are a consequence of an old infection, vaccination, or current presence of the causative agent in the organism.
Indications:
- Preconception advice – planning a pregnancy
- During pregnancy, if preconception exam was not done
- Miscarriages (especially in early II trimester)
- Previous case of births with fetal anomalies
- Anomalies of fetus, amniotic fluid or placenta anomalies detected by ultrasound, with suspicion to TORCH infections
Specimen:
- Blood of a pregnant woman, 3-5ml in EDTA tubes, taken in the morning, before any meal
- Amniotic fluid for fetal testing Amniotic fluid, 3 -5 ml
- Abortion material
The results are obtained within five days.
The price of the set is KM 150.00.
MRSA
Methicillin-resistant Staphylococcus aureus (MRSA) is a bacterium which is resistant to beta-lactam antibiotics, including penicillin and cephalosporins.
Diagnosis
PCR test can detect the presence of Staphylococcus aureus, MRSA and titer, i.e., number of bacteria copies per ml of sample. PCR screening can detect methicillin-resistant strain in different samples, including swab from nose, throat, hands, urine sediment, blood, skin lesions, etc.
Indications:
- Swab from nose and throat, 4 weeks before delivery
- Suspicion to MRSA in newborns, mother or father
Specimen:
- Nose, throat, hand, skin lesion swabs
- Urine sediment
- Blood (3ml, EDTA)
The specimen must be delivered to the lab immediately, at temperature 2 – 25°C.
The results are obtained within five days.
The price is KM 80.00.