Advanced Diagnostic Testing
Hormonal Assessment
FSH, LH, Testosterone, Prolactin, TSH, FT3, FT4, and more
Hormonal assessment is recommended for men with abnormal semen analysis results, reduced libido, erectile dysfunction, symptoms suggestive of low testosterone, or when an underlying hormonal imbalance is suspected to affect fertility.
In many cases, hormonal evaluation is an essential diagnostic tool, as hormones play a crucial role in regulating spermatogenesis, sexual function, and overall male reproductive health. Identifying hormonal abnormalities can help determine the underlying causes of male infertility and guide the most appropriate treatment strategy.
How is hormonal assessment performed?
Hormonal assessment is performed through a blood test and typically includes measurement of hormones such as follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, prolactin, estradiol, and thyroid hormones (TSH, FT3, and FT4). When clinically indicated, thyroid autoantibodies (anti-thyroid peroxidase [Anti-TPO] and anti-thyroglobulin [Anti-TG]) may also be evaluated. Because testosterone levels fluctuate throughout the day, blood sampling is recommended during the morning hours to ensure the most accurate assessment.
Microbiological Testing
Semen culture, PCR testing for aerobic and anaerobic bacteria, Chlamydia, Mycoplasma, Ureaplasma, CMV, HPV, HSV and other pathogens.
Recent scientific evidence has shown that the composition and balance of the microorganisms naturally present in semen—known as the seminal microbiome—play an important role in sperm function and male fertility.
Microbiological testing of semen is performed either through semen culture or by advanced molecular diagnostic techniques (PCR). These highly sensitive tests detect bacteria, viruses and other pathogens, including Chlamydia, Mycoplasma, Ureaplasma, HPV, CMV and HSV, which may cause infections of the male reproductive tract and adversely affect both fertility and overall male reproductive health.
This comprehensive assessment provides valuable information about the seminal microbiome. When abnormalities are detected, the results help guide personalised treatment strategies, such as targeted antimicrobial therapy or probiotic supplementation, depending on the underlying cause.
Who should consider this test?
Microbiological testing is recommended for all men:
- Who are sexually active and wish to detect asymptomatic genital infections.
- Who want a comprehensive assessment of their fertility.
- Who are planning to conceive.
It is particularly recommended for men who:
- Experience symptoms suggestive of genital tract infection or inflammation (such as pain, swelling, blood in the semen or urinary symptoms).
- Have abnormal semen analysis results.
- Have elevated white blood cell counts in the semen (leukocytospermia).
- Have a history of sexually transmitted infections (STIs).
- Are planning to cryopreserve their sperm.
- Are preparing for assisted reproductive treatment (IUI, IVF or ICSI).
- Are part of a couple experiencing recurrent pregnancy loss.
Benefits of early diagnosis
Early identification and treatment of genital infections can:
- Restore or improve male fertility through appropriate medical treatment.
- Help prevent chronic conditions affecting the male reproductive tract, including chronic prostatitis, epididymitis and other complications.
- Reduce the risk of transmitting infections to a partner and help prevent conditions such as vaginitis, cervicitis, pelvic inflammatory disease and urinary tract infections.
- Improve the chances of successful assisted reproductive treatment.
- Reduce the risk of miscarriage.
- Enhance natural fertility
When is semen microbiological testing recommended?
Semen microbiological testing is recommended when there are symptoms of infection, abnormal semen analysis results, unsuccessful attempts to conceive, or before undergoing assisted reproductive treatment.
What does a comprehensive microbiological assessment include?
A comprehensive microbiological assessment includes semen culture and testing for common bacteria, Mycoplasma, Chlamydia, and other clinically significant pathogens using culture and/or molecular diagnostic techniques (PCR), where appropriate.
If an infection is detected, should my partner also be tested?
Yes. In many cases, testing and, if necessary, treating both partners is recommended to prevent reinfection and achieve the best possible treatment outcomes.
Does using a condom protect against genital infections?
Condoms significantly reduce the risk of sexually transmitted infections; however, they do not provide complete protection against all microorganisms or modes of transmission.
Immunological Testing
MAR Test (Mixed Antiglobulin Reaction), Anti-Sperm Antibody Testing and other specialised immunological investigations.
Immunological testing evaluates the presence of anti-sperm antibodies (ASA), which can cause sperm agglutination (clumping), reducing sperm motility and function and, consequently, impairing male fertility.
One of the most widely used diagnostic methods is the MAR Test (Mixed Antiglobulin Reaction). It is typically recommended when sperm agglutination is observed during microscopic evaluation as part of a routine semen analysis.
What causes anti-sperm antibodies?
Anti-sperm antibodies may develop as a result of:
- Previous surgery involving the testes or male reproductive tract (including vasectomy or vasectomy reversal).
- Sexually transmitted infections (STIs).
- Infections or inflammation of the male reproductive system.
- Injury or trauma to the testes or reproductive tract.
When is the MAR Test recommended?
The MAR Test is recommended when sperm agglutination (clumping) is observed during a semen analysis, in cases of unexplained male infertility, following testicular injury or surgery, or whenever the presence of anti-sperm antibodies is suspected. Your fertility specialist or andrologist will determine whether this test is appropriate based on your medical history and semen analysis findings.
Can I still father a child if anti-sperm antibodies are detected?
Yes. The presence of anti-sperm antibodies does not necessarily prevent natural conception, although it may reduce the likelihood of fertilisation by affecting sperm motility and function. Depending on the severity of the condition, your fertility specialist may recommend appropriate treatment or assisted reproductive techniques, such as IVF or ICSI, which can help overcome this barrier to conception.
Biochemical Testing
Fructose, Zinc, Carnitine, Glucose, PSA and other seminal biochemical markers.
Biochemical testing evaluates key components of the seminal fluid that reflect the function of the accessory male reproductive glands, including the seminal vesicles, prostate and epididymis. These biomarkers help assess the quality of the environment that supports sperm survival, function and fertilising potential.
The assessment may include markers such as fructose, zinc, L-carnitine, glucose, acid phosphatase, magnesium, α-glucosidase, PSA (Prostate-Specific Antigen) and other clinically relevant biochemical parameters. Biochemical abnormalities may indicate inflammation, dysfunction of the accessory glands, or nutritional deficiencies that can negatively affect semen quality and male fertility. The results may also suggest deficiencies in essential nutrients, including Vitamin D, Vitamin B12 and folate (folic acid), helping clinicians develop a personalised treatment and nutritional support plan where appropriate.
Can nutritional deficiencies affect male fertility?
Yes. Deficiencies in key vitamins and trace elements, such as Vitamin D, Vitamin B12, folate and zinc, may negatively affect sperm production, motility and function. Identifying these deficiencies allows for targeted nutritional support and personalised management to optimise reproductive health.
Genetic Testing
Karyotype Analysis, Y-Chromosome Microdeletions (Y-Microdeletions), FISH, CFTR Mutation Analysis and other specialised genetic investigations.
Genetic testing is performed to identify chromosomal abnormalities and genetic mutations that may underlie severe male infertility, including azoospermia and severe oligozoospermia. A comprehensive genetic evaluation may include karyotype analysis, Y-chromosome microdeletion testing, CFTR gene mutation analysis, and Fluorescence In Situ Hybridisation (FISH), depending on the clinical indications.
Karyotype Analysis
Karyotype analysis is a fundamental cytogenetic test that evaluates the number and structure of an individual’s chromosomes. The analysis is performed on cells obtained from a blood sample using specialised cytogenetic techniques and microscopic examination, allowing the detection of both numerical and structural chromosomal abnormalities.
Karyotype analysis plays an important role in the investigation of male infertility, as certain chromosomal abnormalities are recognised causes of severe oligozoospermia, azoospermia, recurrent pregnancy loss and unsuccessful assisted reproductive treatment.
One of the most common findings is Klinefelter syndrome (47,XXY), which is associated with impaired sperm production and represents one of the leading genetic causes of male infertility. Karyotype analysis can also identify balanced chromosomal rearrangements, such as translocations and inversions, which may affect fertility, embryo development and reproductive outcomes.
The results provide valuable information for accurate diagnosis, genetic counselling and personalised fertility management, helping clinicians recommend the most appropriate treatment or assisted reproductive strategy for each patient.
Sperm FISH Testing
Sperm FISH (Fluorescence In Situ Hybridisation) is an advanced cytogenetic test performed directly on sperm cells. It is designed to detect the proportion of sperm carrying numerical chromosomal abnormalities (aneuploidies) in specific chromosomes that are most commonly associated with impaired fertility and abnormal embryo development.
The test typically evaluates chromosomes 13, 16, 18, 21, 22, X and Y, as abnormalities affecting these chromosomes have been linked to reduced fertilisation potential, implantation failure, recurrent pregnancy loss and an increased risk of chromosomal abnormalities in the offspring.
Sperm FISH provides valuable information about the genetic quality of sperm and can help guide fertility management, particularly in men with severe male factor infertility, recurrent IVF or ICSI failure, recurrent miscarriage, or when a chromosomal abnormality is suspected. The results assist fertility specialists in recommending the most appropriate reproductive strategy and, where indicated, appropriate genetic counselling or preimplantation genetic testing (PGT).
Y-Chromosome Microdeletion Testing
This test detects microdeletions within the AZFa, AZFb and AZFc regions of the Y chromosome, which are closely associated with impaired sperm production. It is particularly important in men with azoospermia (absence of sperm in the ejaculate) or severe oligozoospermia.
The results can provide valuable information for clinical decision-making, including the likelihood of retrieving sperm through Testicular Sperm Extraction (TESE) or microTESE, and help guide the management of men with severe spermatogenic failure.
Y-chromosome microdeletions are identified using PCR-based molecular analysis performed on DNA extracted from a simple blood sample.
This test is recommended for men with:
- Severe oligozoospermia.
- Confirmed azoospermia before undergoing TESE or microTESE.
- Structural abnormalities involving the Y chromosome.
CFTR Mutation Analysis (Cystic Fibrosis Screening)
Mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene are among the most common inherited genetic disorders in many populations and represent an important cause of male infertility.
The CFTR gene is responsible for producing a protein that regulates the movement of salt and water across cell membranes. Mutations in this gene can impair the function of several organs, particularly the lungs and digestive system, and are also strongly associated with Congenital Bilateral Absence of the Vas Deferens (CBAVD), a condition responsible for obstructive azoospermia in otherwise healthy men.
CFTR mutation analysis is recommended for men with obstructive azoospermia, congenital absence of the vas deferens, or when there is a personal or family history of cystic fibrosis. The results are also important for reproductive counselling, as carrier testing of the female partner may be recommended before attempting pregnancy or assisted reproductive treatment.
Who Should Undergo Karyotype Analysis?
Karyotype analysis is recommended for men who present with one or more of the following indications:
- Azoospermia or severe oligozoospermia.
- Unexplained male infertility or unexplained couple infertility.
- Recurrent pregnancy loss experienced by the couple.
- A family history of chromosomal abnormalities or inherited genetic disorders.
- A previous pregnancy or child affected by a chromosomal abnormality or congenital genetic disorder.
- Clinical suspicion of a genetic condition based on the individual’s medical or family history.
Why is Karyotype Analysis Important?
Karyotype analysis provides valuable information about the genetic causes of infertility and supports informed clinical decision-making regarding fertility treatment and reproductive planning.
The test can:
- Identify chromosomal abnormalities that may impair sperm production or reproductive function.
- Assess the risk of transmitting chromosomal abnormalities or inherited genetic disorders to future offspring.
- Investigate potential genetic causes of unexplained infertility or recurrent pregnancy loss.
- Guide personalised fertility management, including genetic counselling and, where appropriate, Preimplantation Genetic Testing (PGT), such as PGT-SR for couples in which one partner carries a structural chromosomal rearrangement.
When is Sperm FISH Testing Recommended?
Sperm FISH testing is recommended for men with severe male factor infertility, recurrent IVF or ICSI failure, recurrent pregnancy loss, or when there is suspicion of an increased rate of chromosomal abnormalities (aneuploidies) in the sperm. Your fertility specialist or andrologist will determine whether this test is appropriate based on your medical history, clinical evaluation and semen analysis results.
Can Sperm FISH Testing Predict Whether I Will Have a Healthy Baby?
No. Sperm FISH testing cannot predict the outcome of a pregnancy with certainty, nor can it detect or exclude all genetic disorders. However, it can estimate the proportion of sperm carrying specific chromosomal abnormalities (aneuploidies), providing valuable information about the genetic quality of the sperm.
These results help fertility specialists better assess reproductive risk and recommend the most appropriate fertility treatment, genetic counselling and, where indicated, preimplantation genetic testing (PGT) as part of a personalised reproductive care plan.
Semen Microbiota Analysis
The seminal microbiota refers to the community of microorganisms naturally present in semen. Emerging scientific evidence suggests that the balance of this microbial ecosystem may influence sperm function, inflammation within the male reproductive tract, and overall male fertility.
Semen microbiota analysis is performed using advanced molecular techniques, such as Next-Generation Sequencing (NGS), which enable the comprehensive identification and quantification of microorganisms present in a semen sample. Unlike conventional semen culture, microbiota analysis can detect microorganisms that are difficult or impossible to culture, as well as those present in very low abundance.
This test may provide valuable information in men with unexplained infertility, abnormal semen analysis results, recurrent assisted reproductive treatment failure, or when an imbalance of the seminal microbiota (dysbiosis) is suspected. Test results should always be interpreted alongside the patient’s medical history, semen analysis and other laboratory findings to support a personalised diagnostic and treatment approach.
When is Semen Microbiota Analysis Recommended?
Semen microbiota analysis may be recommended for men with unexplained infertility, persistent abnormalities on semen analysis, recurrent IVF or ICSI failure, a history of male genital tract infections, or when dysbiosis of the seminal microbiota is suspected. Your fertility specialist or andrologist will determine whether this investigation is appropriate based on your medical history, clinical assessment and previous laboratory findings.
Can Restoring the Seminal Microbiota Improve Fertility?
In selected cases, restoring a healthy balance of the seminal microbiota may help improve the reproductive environment and support normal sperm function. However, male infertility is often multifactorial, and the benefits of treating microbiota imbalances continue to be investigated. For this reason, the results of semen microbiota analysis should always be interpreted by a fertility specialist as part of a comprehensive fertility assessment and personalised treatment plan.