Rodinia infertility

Female and male infertility panels are applicable for:

• Couples or individuals experiencing delayed conception
• Individuals with a phenotype suggestive of a genetic syndrome associated with sexchromosome aneuploidy
• Women with irregular or absent menstruation
• Men with low sperm count, abnormal sperm morphology or motility
• Individuals or couples planning to undergo Assisted Reproductive Technology (ART)
• Candidates for sperm or oocyte donation
• Individuals with a family history of infertility

Thrombophilia and NAIT panel is applicable for:

• Couples or individuals experiencing recurrent pregnancy loss
• Individuals with early-onset thrombotic events or a strong family history of thrombosis
• Individuals with recurrent episodes of thrombosis
• Neonates with thrombocytopenia
• Neonates with unexplained thrombosis

Infertility affects approximately 1 in 6 couples worldwide.  Standard tests such as hormone analysis, ultrasounds, and semen evaluation explain up to 65% of cases, but for many couples, the cause remains unexplained. Genetics can play a key role, with 10–15% of individuals carrying variants associated with infertility.

Genetic testing can provide crucial information by identifying underlying factors, supporting the assessment of reproductive potential, guiding personalised fertility treatment plans, and highlighting risks relevant to family planning. By integrating genetic information into clinical care, Rodinia can guide couples into making more informed and accurate decisions on the best clinical management and treatment and therefore increase their chances of achieving a pregnancy.

Clinically significant variant detected

A pathogenic or likely pathogenic variant has been identified in a gene tested, which is
associated with infertility.

No clinically significant variant detected

No disease-causing genetic variant has been identified in the genes tested.

Variant of uncertain significance

A genetic change has been detected, but it is currently unknown whether that change is
associated with a genetic disorder.

Carrier status will not be reported for recessive conditions.
The Thrombophilia and NAIT Panel reports the genotype of the variants tested.

By identifying the underlying genetic cause of infertility, Rodinia can help to:

• Determine accurate prognosis
• Evaluate and choose the most optimal treatment options
• Manage clinical care by being aware of potential complications, like ovarian hyperstimulation
• Make informed decisions about pregnancy planning, if applicable
• Recommend testing to family members, if relevant

Genetic counselling is a specialised, patient-centred, impartial, and non-directive communication process that supports patients and their families both before and after genetic testing.

Prior to genetic testing, genetic counsellors obtain a detailed medical and family history and provide education on genetic concepts, the testing process, and available options, along with the potential risks, benefits, limitations, and possible outcomes.

Upon receiving genetic test results, genetic counsellors assist in interpreting the findings and guide individuals through the implications for their own personal health and that of their family members. During post-test counselling, genetic counsellors also provide evidence-based recommendations on next steps, including strategies for prevention, surveillance, and management.

The goal of genetic counselling is to empower patients through knowledge and tailored support, enabling them to make informed and voluntary decisions.

• Genomic DNA extraction from buccal swab
• Mechanical fragmentation and library preparation
• Target enrichment via hybridisation
• Next-generation sequencing of targeted regions
• Detection of SNVs, indels ≤30 bp, and CNVs; CNVs are confirmed with orthogonal methods
• Y-chromosome microdeletion testing via MLPA
• Fragile X analysis performed via PCR fragment analysis
• Variant classification using / criteria.

Detection thresholds include: 

• Sex chromosome mosaicism ≥15%
• Partial X/Y chromosome changes ≥10 Mb 

Performance metrics vary by gene and variant class. All reported variants meet internal validation thresholds. Detailed performance data will be provided following laboratory quality review.

(SME confirmation required)