RESPIRATORY INFECTION SEASON – WHAT SHOULD WE KNOW?

Respiratory infections are the most common reason for patients to see their doctor. Although these infections occur throughout the year, the autumn-winter period is the season when colds and more serious respiratory diseases are most common.


We live in a COVID-19 pandemic, but many other pathogens are all around us and can cause respiratory infections in both adults and children.


For proper treatment of the disease, it is always very important to know the true cause of the disease, in order to act in a timely and targeted manner with appropriate therapy. Particular attention should be paid to atypical triggers of respiratory infections, which cannot be demonstrated by classical microbiological methods but by immunofluorescence techniques and / or molecular methods.


Avicena Laboratory has a wide range of tests for detection and identification of different types of bacteria and viruses by various methods. But first let’s see what are the first signs of respiratory infections?

WHAT ARE THE SYMPTOMS OF RESPIRATORY INFECTIONS?

Depending on which part of the respiratory tract they occupy, respiratory infections can be upper respiratory or lower respiratory infections. Common symptoms include:

  • nasal secretions
  • stuffy nose
  • sneezing
  • coughing
  • scratching, burning or sore throat
  • pain when swallowing
  • general weakness
  • headache
  • difficulty breathing

In addition, there may be muscle pain, mild fever or chills, nausea and loss of appetite. These symptoms last for several days, and if complications occur, even longer.
Respiratory infections are transmitted through close contact with an infected person, through the secretions from sneezing, coughing or objects in the immediate vicinity of the patient. This is especially evident in the winter, when most of the day is spent indoors.


In many cases it is difficult to identify the exact cause of a respiratory infection, especially when it comes to mixed infections. In addition, the symptoms of respiratory infections, whether it be the flu virus, SARS-CoV-2 or another cause, are very similar.

WHICH LABORATORY ANALYSIS DETECT DISEASES OF CAUSES OF RESPIRATORY INFECTIONS?

Causes of respiratory infections are many microorganisms: bacteria, viruses, fungi. The diagnosis should always be based on a detailed examination by a doctor and of course, an accurate laboratory result.
A number of highly sensitive and specific tests are available at Avicenna Laboratory, designed to detect a number of causes of respiratory infections.

  • PNEUMOSLIDE – test for simultaneous detection of antibodies to 9 bacteria and viruses, causes of respiratory infections, which are not detected by conventional microbiological swabs. The test is done through blood, and the results are obtained the same day.

With the right choice of appropriate test and consultation with a doctor, it is found out exactly and in time what caused the respiratory infection and appropriate therapy is given. In doing so, the possible development of complications is prevented and valuable time and resources are not lost.

HOW ARE RESPIRATORY INFECTIONS TREATED?

If it is a viral infection, antibiotics are not needed! Medications are taken to help reduce fever, muscle pain, nasal congestion drops, etc., accompanied by rest and proper nutrition.
If it is a bacterial infection, take medication on the recommendation of a doctor, aimed at the appropriate cause.

Know your genes, know your choices!
Avicena Laboratory expands its portfolio and begins the production of genetic panels for hereditary cancers.

The new portfolio of genetic tests, which will help patients get the best possible diagnostic service, which does not require them to visit laboratories abroad, but from now on world-scale tests applied in the most modern medical centers in the world are also available in our country.

“Presentia” – Genetic panels for the detection of mutations that cause hereditary types of breast, ovarian and uterine cancer. The tests represent a revolutionary solution for predicting the risk of cancer as well as helping those patients who have already been diagnosed with the disease to find out the cause of the occurrence of this condition.

PreSENTIA presents a portfolio of hereditary cancer testing panels. Each panel focuses on a particular group of genes that determine your chances of developing cancer in the future. Genetic changes (mutations) in genes that cause cancer can be passed on to children from their parents.

Why PreSENTIA?

  • Clinically important genetic mutations are evaluated
  • Short processing time of the biological material
  • Safe and easy test
  • By focusing only on the genetic changes tested, PreSENTIA is accurate and precise.

PreSENTIA panels are used to test for many genetic changes that are responsible for causing hereditary cancers. If patients want to know more about their risk of developing cancer, or if a patient has already been diagnosed with cancer and wants to know if the cancer is inherited, PreSENTIA can help.

PreSENTIA can potentially identify genetic changes that would cause cancer. It has a number of benefits in terms of planning, prognosis and making better decisions about the treatment of the disease:

  • Targeted cancer monitoring – recommended screening tests at key time intervals in order to detect cancer early, when treatment is far more effective
  • Preventing cancer by taking prophylactic measures
  • Obtaining useful information about family members who might carry the same genetic mutation
  • Improved disease classification for better clinical disease management
  • Drug therapy (chemoprevention), where possible

PreSENTIA Panel 1: BREAST, UTERUS AND OVARIAN CANCER
The PreSENTIA Breast/Gynecologic Cancer Panel tests for multiple gene mutations that could cause breast, ovarian, or uterine cancer in the future. By early detection of these mutations, PreSENTIA helps patients make better and more informed decisions about their health.

Who is this test for?

  • Patients who have several family members with cancer
  • Family members with early onset cancer
  • Family members with rare cancers
  • A family member with multiple types of cancer
  • A family member diagnosed with a mutation associated with ovarian, uterine, or breast cancer
  • Personal history of previous malignant diseases
    Price: 29,500 denars.
    Issuance of results: 2 – 4 WEEKS
    SPECIMEN REQUIRED: BUCCAL SWIPE (mouth swab).

PreSENTIA Panel 2: BREAST CANCER (BRKA1 & BRCA2 MUTATIONS)
An inherited genetic panel that detects BRCA1/BRCA2 mutations that can cause breast and ovarian cancer. By early detection of these mutations, PreSENTIA helps patients make better and more informed decisions about their health.

Who is this test for?

  • Several family members with cancer on the same side of the family
  • Multiple cancers in the same family member
  • Family members with early onset cancer
  • Family members with rare cancers
  • A family member diagnosed with a germline mutation associated with cancer susceptibility
  • History of previous malignant tumors
    Price: 24,900 denars.
    Issuance of results: 2 – 4 WEEKS
    SPECIMEN REQUIRED: BUCCAL SWIPE (mouth swab).

Oreana – neonatal screening

A detailed genetic picture of your little one’s health!

“Oreana” – A test that provides a detailed genetic picture of the health of newborns, infants and small children. The test was developed with the help of the latest generation of bioinformatics analysis and helps to detect 106 disorders that can cause developmental obstacles in children.

Oreana Neonatal Screening can detect treatable or controllable conditions before the first symptoms appear. With early treatment and a disease prevention plan, symptoms can be avoided and health problems can be minimized or prevented altogether.

Oreana can also be used in newborns, infants and children showing symptoms of a genetic disease that is difficult to identify. In such cases, Oreana can help choose the appropriate therapy that will help the child.

The Oreana neonatal screening test is intended for 106 genetic disorders that are treatable or whose condition can be improved thanks to early detection. Among others, Oreana is used to test:

With Oreana, early detection of conditions that can change a child’s life is carried out, and can have a great contribution to health and quality of life. Initial symptoms of many of these conditions include lack of energy, breathing problems, vomiting, feeding difficulties, and episodes of metabolic crisis that warrant emergency care. Although treatment can begin after the child begins to show the first symptoms, which can happen weeks or months after birth, the child’s growth and development are already affected by the condition. Early detection and starting treatment as early as possible is the most appropriate way to prevent the onset of symptoms or to minimize the impact of the condition.

142 genes and 106 autosomal recessive, autosomal dominant and X-linked chromosomal disorders can be tested using Oreana. Disorders tested for with Oreana are included in the Panel of Recommended Uniform Screenings, which is a list of disorders selected based on the American College of Medical Genetics (ACMG) recommendations for newborn screening, whose early detection can prevent or to reduce the serious consequences of certain conditions, such as developmental delay, cognitive disorders, neurological and physical difficulties.

The Oreana test is useful for:
• Asymptomatic infants
for early identification of conditions that initially cause no symptoms, with babies showing no signs of illness. However, once symptoms appear, the damage they can cause can be irreversible and lead to a rapid deterioration in a child’s health, which is why early detection is so helpful.

• Symptomatic infants
showing signs and symptoms of a disease that is difficult to clearly identify precisely because of the complexity or variability of symptoms. In such cases, the Oreana test can accurately identify the genetic mutation (change in DNA) that is responsible for the disease and can help the child receive the optimal health treatment.

A SIMPLE SAMPLE

Testing is quick and safe for children. For the production of Oreana, specialized soft sticks are used in Avicenna Laboratory, with which biological material is taken from the inside of the child’s cheek, with circular movements. The procedure is painless and takes only a few seconds.

FAST RESULTS

The results are obtained quickly, so if necessary, your baby can start the appropriate treatment in the shortest possible time.

SUPERIOR TECHNOLOGY

Superior technology developed by top experts that delivers accurate results.

PRECISE DETECTION

It tests for genetic mutations that cause diseases accompanied by serious health problems.

DETECTED 106 disorders

It complements routine newborn screening programs that test for fewer disorders.

WHEN IS THE IDEAL TIME TO TAKE THE TEST?

Your child can be tested after birth, right through to early childhood. Ideally, the earlier testing is done, the sooner it will be known if the child is affected by a given condition and treatment can be started, thereby preventing symptoms or minimizing the impact of the disease.

WHAT CONDITIONS CAN BE TESTED WITH Oreana?

With the help of Oreana, 106 genetic conditions can be tested, with the early detection of which can prevent or reduce the serious consequences of certain conditions, such as developmental delay, cognitive disorders, neurological and physical difficulties. Tested conditions may occur as a result of an inherited condition from parents unaware of their carrier status, with or without a prior family history of such a disorder.

HOW MUCH DOES THE Oreana TEST COST?

Price: 27,900 denars.

What is the release time for Oreana results?

Issuance of results: 2-3 WEEKS

IS AN APPOINTMENT NECESSARY?

An appointment is not required to take the test. You can visit us during the working hours of our laboratories.

ADDITIONAL QUESTIONS?

If you have additional questions regarding the test, contact your doctor or contact us at lab@avicenalab.com.mk or through our contact center: 02 3179 001.

Rodinia – Male and Female Infertility Panels

Avicena Laboratory expands its portfolio and begins the development of genetic tests for male and female infertility.

The new portfolio of genetic tests, which will help patients get the best possible diagnostic service, which does not require them to visit laboratories abroad, but from now on world-scale tests applied in the most modern medical centers in the world are also available in our country.

“Rodinia” – Genetic panels to discover the cause of infertility in men and women. These two panels, panel for “female” and panel for “male” infertility can help couples and young people to successfully detect the genetic cause of infertility, prevent this condition and start timely treatment.

Rodinia is a screening test for genetic changes (mutations) associated with infertility. By identifying the genetic cause of infertility, you can make informed and accurate decisions that will result in the best clinical treatment plan for the patient, which will help increase the chances of conception.

The Rodinia test is suitable for couples or individuals who cannot achieve pregnancy, young people with a suspected disorder of sexual development and people with a family history of infertility.

Who is Rodinia for?
Couples or individuals who cannot achieve pregnancy.
Women with irregular periods or women who have no periods at all.
Men with a low number of sperm in the semen, irregular shape or movement of the sperm.
Individuals with external characteristics suggestive of a syndrome related to sexual development.
Couples or individuals intending to undergo assisted reproductive technology (ART) treatment.
Candidates for sperm or oocyte donation, as well as individuals with a family history of infertility.

Rodinia FEMALE INFERTILITY PANEL:
It includes X-chromosome testing and disorders such as primary ovarian failure, polycystic ovary syndrome, hypogonadotropic hypogonadism, and ovarian hyperstimulation syndrome.
Price: 30,500 denars
Issuance of results: 2 – 4 WEEKS
SPECIMEN REQUIRED: BUCCAL SWIPE (mouth swab).

Rodinia MALE INFERTILITY PANEL
It includes X and Y chromosome testing, including Y chromosome microdeletions and disorders such as hypogonadotropic hypogonadism, such as Kallmann syndrome.
Price: 30,500 denars
Issuance of results: 2 – 4 WEEKS
SPECIMEN REQUIRED: BUCCAL SWIPE (mouth swab).
Price with discount (if both partners are tested together): MKD 58,500

Avicena Laboratory supports you throughout your pregnancy

The advancement of science has led to development of a wide array of laboratory analyses, to support women throughout any period of their lives. Many women face numerous challenges, since the very moment of conception, all the way to the birth of their child. Laboratory analyses and services are an essential component of every pregnancy, as they provide important insights into the health of both the mom-to-be and her baby.

Avicena Laboratory offers the widest selection of both routine and specific tests required during pregnancy, designed to provide useful information on both mother’s and baby’s health.

PREGNANCY TEST

Beta HCG – The test determines the level of Beta HCG via a blood pregnancy test, and serves to confirm pregnancy in addition to commercially available over-the-counter pregnancy tests.

RECOMMENDED TESTS IN THE FIRST TRIMESTER OF PREGNANCY (0-12 gestation week)

Complete blood count, hemoglobin and sedimentation test – Significant decrease of red blood cells (erythrocytes) count, alongside with decreased hemoglobin levels suggest potential anemia, a disorder which is often associated with pregnancy, and in most of the cases, is caused by low levels of iron and folic acid (vitamin B12).

Urinalysis and urine culture test (microbiological urine test).

Screening for the presence of infectious diseases via blood test and microbiological smear tests: TORCH, HIV1/2, HBV, HCV.

Early screening and treatment of infections is of key importance for the proper fetal development and the health of babies during pregnancy and after childbirth.

These tests provide valuable information in terms of the presence of an infection at the time of testing, as well as in terms of any infection that has existed in the past. Triggers of such infections may enter the placenta at some point and cause complications to baby’s health, during pregnancy or upon childbirth.

RECOMMENDED TESTS IN THE SECOND TRIMESTER OF PREGNANCY (13-27 gestation week)

PRISCA – (Prenatal Risk Calculation Software) consists of quantifying certain markers which circulate in mother’s blood and directly impact both the development and the wellbeing of the child. Test values obtained are then combined with other significant parameters, such as the age and the overall health condition of the mother, as well as with the measurements of the baby made during an ultrasonography (gynaecological scan). Once obtained, all data are fed into a computer, which uses special software and calculates baby’s risk of being affected by any of the following anomalies: Down’s syndrome, Edward’s syndrome and neural tube defect.

VERAgene – The newest generation of non-invasive prenatal test

VERAgene is the only non-invasive prenatal test that performs simultaneous screening for aneuploidy, microdeletions and 100 monogenetic diseases.
Monogenetic diseases tested by VERAgene are associated with moderate to severe phenotype and have a significant impact on quality of life. With screening for aneuploidy and microdeletions and 100 monogenetic diseases, VERAgene provides a comprehensive solution for potential parents.

Learn more about VERAgene on the following link.

Complete blood count, hemoglobin and sedimentation test.

THIRD TRIMESTER (28-40 gestation week)

oGTT (Оral Glucose Tolerance Test) – glucose tolerance test helps diagnose gestational diabetes – increased glucose levels in blood, which develops during pregnancy.

Usually, pregnant women are recommended to undergo this test between the 24th and the 28th week of pregnancy. Women can also undergo this test at an earlier state of their pregnancy, if there are signs and symptoms of diabetes or if there is a history of gestational diabetes in previous pregnancy(s), based on doctor’s recommendations.

Group B Streptococcus – this is a smear test done before childbirth, in order to prevent potential transmission of infection to the baby.

Complete blood count, hemoglobin and sedimentation test.

Urine culture test (microbiological urine test).

Avicena Laboratory is your one-stop laboratory! 

Please click on the following link to find out more about the prices of the medical tests above.

Please note that this leaflet is of informative character and the tests stated above are only recommended based on an evaluation of your gynecologist. Depending on the overall health, your gynecologist may recommend that additional analyses be conducted.

Why is genetic testing important for male infertility?

Infertility is a common medical problem affecting 15% of people trying to conceive. In 30% to 50% of cases, the man is the main factor in the inability to conceive.

Detection of genetic causes of male infertility allows the diagnosis of infertility in couples trying to start a family, as well as making recommendations for further steps to be taken (artificial insemination techniques and appropriate genetic counseling).

Spermatogenesis is an essential process that is regulated by many specific genes located on the Y chromosome. Most of these genes are located in a specific region known as the azoospermia factor (AZF) region of the long arm of the human Y chromosome.

AZF microdeletions are recognized as the most common structural chromosomal abnormalities and are the leading cause of male infertility.

The changes in this region are associated with abnormalities in sperm production, and thus to infertility. AZF microdeletions are one of the main causes of azoospermia (complete absence of sperm in the ejaculate) and severe oligozoospermia (less than 5 million sperm in the ejaculate in men).

A new test performed in the Avicena Laboratory detects chromosomal changes-deletions of AZF (AZFa, AZFb, AZFc) on the human Y-chromosome, using the RT-PCR method.


Sample required: blood
Production time: 1 working day.
We are at your disposal for additional questions and information on 02 3179 001.

IMPROPER STORAGE AND PROCESSING OF FOOD – A challenge for the development of bacteria

Bacteria such as Salmonella, Shigella and Campylobacter often cause stomach cramps, diarrhea, nausea and vomiting, headache, fever. Symptoms usually appear 6 to 72 hours after infection. Symptoms usually last 4 to 7 days, sometimes much longer.
These bacteria are mainly transmitted by eating undercooked food made from infected animals (meat, chicken, eggs and products made from them) or food produced for mass production (chocolates, candies, all kinds of confectionery products) that are not stored properly temperature and environment.
Bacteria are killed by complete cooking of food (well-cooked food).

Avoid raw or undercooked meat, poultry or eggs. Poultry and other meats – for example, burgers, sausages and roast rolls – should not be eaten if they are pink in the middle. Food handling – as bacteria can remain on the hands, it is very important to always wash your hands thoroughly after using the toilet and before preparing food.

IMPROPER WASHING OF VEGETABLES AND FRUIT – Increased chance of contact with viruses

Norovirus, Rotavirus, Adenovirus, Astrovirus and Sapovirus are just some of the viruses that cause various types of gastrointestinal diseases in humans and are accompanied by nausea, fever, vomiting …
Viruses often hide behind poorly washed products such as fruits and vegetables, and during summer temperatures, they have a great chance of multiplying.
In Avicena Laboratory a complete gastrointestinal package-detection of 17 causes of gastrointestinal infections 6 viruses (Norovirus G I, Norovirus G II, Rotavirus, Adenovirus, Astrovirus Sapovirus), 9 bacteria (Salmonella Species, Salmonella ENTERERICA SEROVARICA Shigella species, Shigella dysenteriae, Shigella flexneri, Campylobacter species, Campylobacter jejuni, Campylobacter coli) AND 2 FUNGI (Candida albicans and Candida species), with MULTIPLEX REAL-TIME PCR method.

HOT AND MOISTURE WEATHER – Increased chance of tick bites

Spring has arrived, as have germs and other inconveniences that go along with high temperatures. Infections, which are normal and accompanied by fever, can be mild but also more serious. There is a lot of talk these days about the dangers of ticks and mosquitoes and the diseases they can transmit to humans and animals. They are regularly present in the spring and summer months, so the danger from them is greater in this period.
Lyme disease is a multisystem disease that has a subacute and chronic course and is caused by the bacterium Borrelia burgdorferi, which is transmitted by the tick through its sting to the host. The disease first affects the skin and then the heart, joints and central nervous system.
Lyme disease is manifested by local swelling and redness at the site of the sting and in the surrounding area, 3-32 days after the incident. Local redness is warm and usually not painful. In 50% of patients, identical changes may occur in other parts of the body, and in 15% of patients, skin changes may not occur. In addition to skin changes, fever, chills, malaise, headache, and enlarged regional lymph nodes may occur.
Avicena Laboratory offers you a complete assessment of your health. A new, modern, indirect immunofluorescence test for the detection of IgG and IgM antibodies in Borrelia burgdorferi. This test is central to the diagnosis of Lyme disease due to its high sensitivity and specificity, the short time to obtain a definitive answer (one day) and the fact that the cultivation of borreliosis is very difficult, long-lasting and unreliable.

INCREASED TEMPERATURES – Increased chance of mosquito bites

Leishmaniasis is a parasitic disease caused by a protozoan (single-celled parasite) of the genus Leishmania. It is transmitted by the bite of certain types of mosquitoes (which are also present in our country, and are different from ordinary mosquitoes), which have previously bitten a dog that is infected with this parasite. The parasite attacks the body’s defense system and if left untreated, can turn into a serious disease.
Leishmaniasis is characterized by symptoms that at first glance are similar to all other symptoms that indicate reduced immunity, ie, decreased appetite, fever, weakness, fatigue, anemia, sores at the site of the mosquito bite, lethargy and others.
Avicena Laboratory offers you the most modern test for diagnosing leishmaniasis and clarifying the immune status. RIDASCREEN ® Leishmania Ab Test, enzyme immunoassay (EIA) of German manufacturer R-Biopharm for quantitative determination of specific IgG antibodies against Leishmania infantum in blood.

The spring has arrived, as well as the microbes and other nuisances, which go hand in hand with high temperatures. Infections which are a normal occurrence during high temperatures might be mild but also deadly. These days, one of the most talked about topics is the danger of ticks and mosquitos, as well as the diseases that they might transfer to people and to animals. They are usually present in spring and summer months, so therefore the danger they might cause is higher in this period.

What is Lyme disease and what causes it?

Lyme disease is a multisystem disease with a subacute and chronic course, caused by bacteria Borrelia burgdorferi, which is transmitted to the host by tick bite. This disease primarily affects the skin, then the heart, joints, and the central nervous system.

Lyme disease is manifested by the appearance of local tissue swelling and redness at the site of the tick bite and the surrounding area in 3 to 32 days after the incident. The local rash is warm and usually is not painful to the touch. In 50% of patients, identical changes as those describe above can occur on other parts of the body, and in 15% of patients skin changes may not appear at all. Besides skin changes, symptoms may include increased temperature, fever, malaise, headache, and enlarged regional lymph nodes.

If the disease is not recognized and left untreated, 6 to 8 weeks later the second stage of the disease will develop which is characterized by joint pain, neurological, and cardiac symptoms.

The third stage develops in untreated patients, who after ten months or years develop permanent damage of the affected organs.

How is Lime disease diagnosed?

Avicena Laboratory offers a complete assessment of your health condition. New, modern, indirect immunofluorescence test for detection of IgG and IgM antibodies that Borrelia burgdorferi sensu lato in human serum and IgG antibodies in cerebrospinal fluid (CSF) – RIDA®FLOUR Borrelia burgdorferi. Since the cultivation of borreliae is very difficult, long and uncertain, this test has the main role in the diagnosis of Lyme disease because of its high sensitivity and specificity, as well as short period for getting definitive results (in one day).

Leishmaniasis (Kala Azar – “Black Death”)

Leishmaniasis is a parasitic disease caused by protozoan (single-celled parasite) of the genus – Leishmania. Transmitted by the bite of certain mosquito species (present in Macedonia, and different from the ordinary mosquitoes), after biting a dog infected with this parasite. The parasite attacks the immune system of the body and if left untreated, it might progress into a serious illness with deadly consequences.

Clinical picture

Leishmaniasis is characterized by symptoms that at first sight are similar to all other symptoms that indicate reduced immunity, i.e., decreased appetite, fever, weight loss, fatigue, anemia, sores at the mosquito bite site, fatigue, etc.

It is manifested in three ways:

– Cutaneous (skin)

– Mucocutaneous (skin-mucosa)

– Kala-azar (Black Death, affecting internal organs )

Annually about 1.5 million people in the world contract the skin form of the disease, and about 1.5 million people of Kala Azar.

The incubation period (from the time of the bite to the manifestation of the first symptom of the disease) is from 7 days to several months for the skin form, and 10 days to several years for the visceral form – Kala Azar.

Diagnosis

Avicena Laboratory offers the most sophisticated test for diagnosis of leishmaniasis and elaborating the immune status. RIDASCREEN ® Leishmania Ab test, enzyme immunoassay (EIA) of German manufacturer R-Biopharm for quantitative determination of specific IgG antibodies against Leishmania infantum in the human serum.

ANSWERS TO FREQUENTLY ASKED QUESTIONS ABOUT VERACITY

What is NIPD?

NIPT is a non-invasive prenatal test which analyzes cell-free DNA in the mother’s blood to identify genetic syndromes such as trisomies and sex chromosome aneuploidies in the fetus.

What is VERACITY?

VERACITY is a new generation non-invasive prenatal test that analyses cell-free DNA extracted from the mother’s blood to detect fetal genetic disorders. VERACITY can accurately detect trisomies Down syndrome, Edwards syndrome and Patau syndrome. VERACITY also tests for syndromes caused by sex chromosome aneuploidies and microdeletions as well as, provides the option to know the gender of the baby. VERACITY is a robust reliable non-invasive prenatal test that has been validated for singleton and twin pregnancies, and can also be used in IVF pregnancies.

What disorders are detected by VERACITY?

VERACITY tests for:
Trisomy: Down syndrome, Edwards syndrome, Patau syndrome;
Aneuploidy of sex chromosomes: Turner syndrome, triple X syndrome, Klinefelter syndrome, Jacobs syndrome, XXYY syndrome;
• microdeletions: DiGeorge syndrome, 1p36 deletion syndrome, Smith-Magenis syndrome and Wolf-Hirschhorn syndrome;

What disorders are detected by VERACITY?

VERACITY is a very important test because it provides safe and complete screening of the health condition of the fetus at a very early stage of pregnancy. VERACITY is a new generation non-invasive prenatal test that has significantly high accuracy (> 99%) and has no risk to the mother and fetus.

What are Down Syndrome, Edwards Syndrome and Patau Syndrome?

Down syndrome, Edwards syndrome, and Patau syndrome are genetic disorders caused by chromosomal trisomies. Down syndrome is caused by an extra copy of chromosome 21, while Edwards syndrome and Patau syndrome are caused by an extra copy of chromosome 18 and 13. Down syndrome is characterized by intellectual disability and congenital abnormalities and occurs in approximately 1 in 700 pregnancies. more common in pregnant women over 35 years of age.
Edwards syndrome and Patau syndrome are less common and occur in 1 in 3,000 and 1 in 10,000 pregnancies, respectively. These syndromes are characterized by severe congenital abnormalities and a rare survival rate after the first year of life.

What are sex chromosome aneuploidies?
The sex chromosomes X and Y are carriers of sex-determining genes (female – XX, male – HU). Aneuploidy occurs when the sex chromosome has an extra copy or when it lacks a copy.
Such genetic conditions are most often manifested by impaired ability to reproduce, mild to severe learning difficulties and behavioral problems.
VERACITY detects the following sex chromosome aneuploidies:
Turner syndrome is characterized by the presence of one X chromosome and the absence of the other X chromosome. Occurs only in female children (monosomy X – karyotype 45, X0)
Triple X syndrome is characterized by the presence of an extra copy of the X chromosome. Occurs only in female children (trisomy X – karyotype 47, XXX)
Klinefelter syndrome is characterized by the presence of an extra copy of the X chromosome. Occurs only in male children (karyotype 47, XXY)
Jacobs syndrome is characterized by the presence of an extra copy of the Y chromosome. Occurs only in boys (karyotype 47, XYY)

What are microdeletions?
These genetic disorders are caused by the deletion of part of a chromosome. They are manifested by congenital anomalies and intellectual disability. The severity of the symptoms varies depending on the size and location of the microdeletion. The most common microdeletion is DiGeorge syndrome, which occurs in one in a thousand pregnancies.

Why should I choose VERACITY?
VERACITY is a non-invasive prenatal test of the new generation with 99% accuracy. The high accuracy of VERACITY has been demonstrated in several clinical validation studies using several thousand samples. VERACITY is a safe non-invasive test for the mother and fetus because the only sample needed for this test is venous blood from the mother.
The VERACITY test is validated for single and twin pregnancies as well as for pregnancies achieved by assisted reproduction techniques (IVF, including pregnancies with donated eggs) and can be performed after the 10th week of gestation. This test additionally determines the sex of the fetus.

For all other questions, you can call 02 3179 001 and talk to a representative of Avicenna Laboratory or consult your gynecologist about the test.

How much does the VERACITY test cost?
The price for making the VERACITY test is 31900 denars and it is available in installments.

ANSWERS TO FREQUENTLY ASKED QUESTIONS ABOUT VERAgene

What is a NIPT – non-invasive prenatal test?

NIPT stands for Non-Invasive Prenatal Testing. This is a test that can be done on pregnant women during or after the 10th week of gestation to check for certain genetic conditions in the fetus. NIPT tests analyze fetal cfDNA, which crosses the placenta and circulates in the mother’s blood. Fetal DNA analysis can identify certain genetic conditions in the fetus, as well as the sex of the fetus.
The NIPT test is very important for every pregnant woman, because it provides an accurate and safe way to test the fetus for genetic disorders before birth. Prior to the introduction of this revolutionary test, testing options were either biochemical screening in combination with ultrasound or invasive prenatal diagnostics such as amniocentesis or chorionic villus sampling (CVS).

What are genetic conditions?

Genetic conditions are genetic disorders caused by unwanted changes in the genome that occur during conception. The test detects three types of genetic conditions:
Aneuploidy is a genetic condition that occurs when a chromosome has an extra copy (trisomy) or when it lacks a copy (monosomy).
Microdeletions is a genetic condition caused by the deletion of a part of a chromosome
Monogenetic diseases are genetic conditions in which pathological changes occur in a single gene.

What is VERAgene?

VERAgene is the only comprehensive non-invasive prenatal test currently on our market that performs simultaneous screening for aneuploidy, microdeletions and 100 monogenetic diseases. VERAgene is, above all, completely safe for both mother and fetus. From an extremely small sample of the mother’s venous blood and a buccal swab from the biological father, the health of the fetus at the earliest stage of pregnancy can be accurately assessed. It can be done by any pregnant woman starting from the 10th week of gestation, has a high accuracy of 99% and is the only test of its kind in our market that includes a sample of both parents.

What genetic conditions can be detected by VERAgene?

VERAgene can screen for trisomies such as Down syndrome, Edwards syndrome, Patau syndrome, sex chromosome aneuploidies, microdeletions such as DiGeorge syndrome, 1p36 deletion syndrome, Smith-Magenis syndrome and Wolf-Hirschhorn syndrome and 100 monogenic diseases with autosomal recessive and X-linked inheritance. These include Beta Thalassemia, Cystic Fibrosis, Tay-Sachs disease, Canavan disease, Sickle Cell disease, Phenylketonuria, Alport syndrome and many more. By combining detection of aneuploidies and microdeletions with the screening of monogenic diseases, VERAgene provides a comprehensive picture of the pregnancy using a single test.

What are Down Syndrome, Edwards Syndrome and Patau Syndrome?

Down syndrome, Edwards syndrome and Patau syndrome are genetic disorders caused by chromosomal trisomies. Down syndrome is caused by an extra copy of chromosome 21 whereas Edwards syndrome and Patau syndrome are caused by an extra copy of chromosome 18 and chromosome 13, respectively. Down syndrome is characterized by intellectual impairment and congenital abnormalities. Down syndrome occurs approximately in 1 in 700 pregnancies but is more frequent in pregnancies in women over 35. Edwards syndrome and Patau syndrome are less common occurring in 1 in 3000 and 1 in 10000 pregnancies, respectively. Edwards and Patau syndromes are characterized by severe congenital abnormalities and rarely survive past the first year of life.

What are sex chromosome aneuploidies?

Sex chromosome aneuploidies are genetic disorders caused by the presence or absence of a sex chromosome. The 23rd pair of chromosomes determine the sex of an individual. Women have two X chromosomes and men have one X and one Y chromosome. There are four major sex chromosome aneuploidies:

  • Turner syndrome is characterized by the presence of a single X chromosome.
  • Triple X syndrome is characterized by the presence of three X chromosomes.
  • Klinefelter syndrome is characterized by the presence of two X chromosomes and one Y chromosome.
  • Jacob syndrome is characterized by the presence of one X chromosome and two Y chromosomes.

What are microdeletions?

Microdeletions are genetic conditions caused by the loss of a part of a chromosome. Microdeletions are characterized by congenital abnormalities and intellectual impairment. The severity of the symptoms varies depending on the size and location of the microdeletion. The most common microdeletion syndrome is DiGeorge syndrome which occurs approximately once in 1000 pregnancies. The prevalence of DiGeorge syndrome increases to 1 in 100 in pregnancies with major structural anomalies such as congenital heart disease.

What are monogenetic diseases?

Monogenic diseases are caused by a variant (a version that is different from the standard) in a single gene (single gene diseases). Such conditions can be autosomal dominant which are caused when a variant exists on only one chromosome, or autosomal recessive where a variant needs to be present in both chromosomes. There are also X-linked diseases, where the mutation is always on the X chromosome and affects males and females differently. VERAgene analyses over 2000 variants to detect 100 autosomal recessive and X-linked monogenic diseases.

Why should future parents consider making the VERAgene test?

Microdeletions and single gene diseases – unlike aneuploidies – do not have a maternal age associated risk, and most of them do not have chemical or ultrasound biomarkers that can help in early detection. The cumulative risk for the fetus to have either an aneuploidy, microdeletion or a monogenic condition screened by VERAgene is 1 in 50 in moderate to high-risk pregnancies. VERAgene can accurately screen for these conditions to help parents take informed decisions about possible treatment and clinical management.

For all other questions, you can call 02 3179 001 and talk to a representative of Avicenna Laboratory or consult your gynecologist about the test.


How much does the VERAgene test cost?
The price for making the VERAgene test is 37900 denars and it is available in installments.