Comprehensive Male Fertility Testing with Advanced Genetic Solutions

Identify the root cause of male factor infertility with precision diagnostics. From chromosomal analysis to advanced NGS panels, our comprehensive male fertility testing helps you take the next step toward fatherhood.
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A vector banner image of a man discussing with a medical professional for assessing male reproductive genetic health.
A vector image illustrating sperm DNA fragmentation.

Understanding the Role of Genetics in Male Infertility

Infertility is a common concern for many couples, with male factors often playing a significant role. While lifestyle and physical health contribute — many underlying causes are linked to genetics. Male fertility testing has evolved beyond simple semen analysis to include comprehensive genetic testing services that identify chromosomal abnormalities and DNA defects.

At Anderson Genetics, we provide a comprehensive suite of fertility testing for men to bridge the gap between diagnosis and successful conception. By identifying the genetic causes related to male infertility, we empower couples and clinicians with the data needed to choose the right path — whether through medical treatment or assisted reproductive technologies like IVF and ICSI.

Constitutional Karyotyping

Constitutional karyotyping is a foundational test used to examine the size, shape, and number of chromosomes in a sample of body cells. As part of chromosomal analysis for male infertility, this test helps identify underlying genetic causes that may impact reproductive outcomes. Numerical or structural chromosomal abnormalities (such as Klinefelter syndrome or balanced translocations) are significant genetic causes of male infertility that can lead to azoospermia or recurrent pregnancy loss.
Why it’s needed
To detect conditions where an extra or missing chromosome interferes with sperm production.
What it reveals
To detect conditions where an extra or missing chromosome interferes with sperm production.
Karyotype test cost
At Anderson, we offer competitive pricing for high resolution karyotyping — ensuring accessibility to vital genetic insights.

Y Chromosome Microdeletion

Y chromosome microdeletion is a genetic condition in which part of the Y chromosome is missing. Y chromosome microdeletion can lead to infertility or a reduced ability to produce sperm. Y chromosome microdeletion is caused by a deletion of genetic material on the Y chromosome. The most common symptom of Y chromosome microdeletion is infertility. Men with Y chromosome microdeletion may have a reduced ability to produce sperm or may not produce any sperm at all.

Y chromosome microdeletion are categorized based on the region of the Y chromosome that is affected. The three most common types of regions evaluated are:

AZF (Azoospermia Factor) a, b, and c:

These deletions involve the genes in the AZF region of the Y chromosome, which are important for sperm production. AZF deletions are the most common cause of male infertility.

AZFc (Azoospermia Factor c):

This deletion involves a different region of the Y chromosome and can lead to a reduction in sperm count and motility.

AZFb+c:

This deletion involves both the AZFb and AZFc regions of the Y chromosome and can lead to a combination of reduced sperm count, motility, and quality.

Vector image of a medical professional testing for Y Chromosome Microdeletion.
A vector image illustrating sperm DNA fragmentation.

Sperm DNA Fragmentation

Sperm DNA fragmentation can have a significant impact on male fertility and pregnancy outcomes. It is important to understand the causes and diagnosis of sperm DNA fragmentation in order to effectively treat the condition and improve fertility.

Sperm DNA fragmentation refers to the breaking of DNA strands in the sperm cell. This can result in reduced fertility and increased risk of miscarriage or birth defects. Understanding sperm DNA fragmentation is crucial in the diagnosis and treatment of male infertility.

Causes of Sperm DNA Fragmentation

Sperm DNA fragmentation can be caused by a number of factors, including:
Oxidative Stress
This is when there is an imbalance between free radicals and antioxidants in the body, which can lead to cell damage.
Environmental Factors
Exposure to toxins, chemicals, radiation, and other environmental factors can cause sperm DNA fragmentation.
Lifestyle Factors
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
Genetic Factors
In some cases, genetic mutations can cause sperm DNA fragmentation.
Infections
Certain infections can cause inflammation in the reproductive tract, which can lead to sperm DNA fragmentation.

Sperm DNA Fragmentation Index (DFI):

Sperm DFI stands for DNA fragmentation index, which is a measure of the percentage of sperm with damaged DNA. A high DFI can indicate poor sperm quality and fertility issues. Measure DNA fragmentation in sperm cells by:
  • Terminal Deoxynucleotidyl Transferase dUTP Nick-End Labeling (TUNEL): This technique uses a fluorescent dye to label the broken ends of DNA strands in sperm cells. The cells are then analyzed using microscopy, which allows for visualization and quantification of DNA fragmentation.
  • Comet Assay: This technique involves embedding sperm cells in agarose gel and subjecting them to electrophoresis. This causes fragmented DNA to migrate away from the nucleus, forming a “comet” shape that can be visualized and quantified using microscopy.
  • Sperm Chromatin Dispersion (SCD): This technique involves treating sperm cells with a detergent to remove proteins that bind to DNA, allowing for visualization of fragmented DNA using microscopy.
Sperm DNA fragmentation is illustrated with a vector image of medical professionals examining a DNA fragmented structure.
Vector illustration for Sperm Aneuploidy testing.

Sperm Aneuploidy Testing

Sperm Aneuploidy Testing is a diagnostic test used to evaluate the genetic material of sperm cells. Aneuploidy refers to an abnormal number of chromosomes in a cell, which can lead to infertility or an increased risk of genetic disorders in offspring.

Why is Sperm Aneuploidy Testing Important?

Sperm aneuploidy testing is important because it can provide valuable information about male fertility and the potential risk of genetic abnormalities in offspring. Aneuploidy can be caused by a variety of factors, including advanced age, exposure to toxins or radiation, and genetic mutations. By identifying aneuploidy in sperm cells, healthcare providers can work with couples to develop appropriate fertility treatment plans or genetic counseling.

GeneSight Andro — Male Infertility Gene Panel

GeneSight Andro is our premier male infertility gene panel — utilising Next-Generation Sequencing (NGS) to screen for mutations in multiple genes simultaneously. This NGS panel for male factor infertility is designed for men with idiopathic (unexplained) infertility — providing a deep dive into the molecular triggers of reproductive failure.
Targeted AnalysisScreens for specific gene variants associated with obstructive azoospermia, primary ciliary dyskinesia, and hormonal disorders.
Precision MedicineOffers a definitive diagnosis when other tests come back inconclusive.

The Testing Process at Anderson Genetics

Our diagnostic process combines advanced technology with expert genetic interpretation at our state-of-the-art genetics lab:

Sample Collection

A simple blood sample (for Karyotyping and GeneSight Andro) or a semen sample (for DNA Fragmentation and FISH) is collected.
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Using NGS, FISH, and PCR technologies — our laboratory analyses chromosomal structures and specific gene sequences.

Advanced Molecular Analysis

Specialised Interpretation

Our geneticists evaluate the data to identify variants or deletions linked to male reproductive health.

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A comprehensive report is generated — outlining the genetic findings and their implications for your fertility journey.

Detailed Reporting

Genetic Counselling Support

Our specialists help explain the results and guide couples on available reproductive options, such as TESE, ICSI, or PGT-M.

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A DNA Structure
An inquiry for a Male Reproductive Genetic Health testing appointment is illustrated.

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How Genetic Testing Benefits Your Fertility Journey

Advanced genetic testing for infertility provides valuable insights for individuals and couples planning a family
Accurate Diagnosis
Moves beyond "unexplained infertility" to find the biological root cause.
Customised Treatment Plans
Helps doctors decide if surgical sperm retrieval or specific IVF protocols are necessary.
Risk Assessment
Identifies the likelihood of passing genetic conditions to male offspring (specifically in Y-chromosome deletions).
Improved Success Rates
Increases the chances of a successful pregnancy — by selecting the most viable reproductive path based on genetic health.