Rodinia - genetic panel for male infertility

What is the Rodinia test?

Rodinia is a genetic test that detects changes in genes associated with male infertility. The panel includes 40 genes and detects abnormalities of the sex chromosomes (X and Y), including Y chromosome microdeletions. This allows not only for an accurate diagnosis but also for planning personalized treatment, including assisted reproductive procedures (e.g., IVF with PGT-M). Therefore, in such cases, it is worth performing the Rodinia test, which is a non-invasive and completely safe test that enables determination of the genetic cause of infertility.

Who is the Rodinia – Male Infertility test for?

• individuals experiencing difficulties achieving pregnancy,
• individuals with a phenotype indicating a genetic syndrome related to sex chromosome aneuploidy,
• men with low sperm count, abnormal sperm structure, or reduced sperm motility,
• any individual or couple planning treatment using assisted reproductive technology (ART),
• candidates for sperm donation,
• individuals with a family history of infertility,
• individuals with congenital bilateral absence of the vas deferens,
• patients with suspected hypogonadotropic hypogonadism, such as Kallmann syndrome.

How to prepare for the test?

• No special preparation is required. You do not need to be fasting or discontinue medications. A doctor’s referral is not required.
• After purchasing the test, visit the selected facility during collection hours to provide an oral epithelial swab.
• You may complete the test within 3 months of purchase (counting from the date indicated in the order confirmation).

How does the test work?

• Purchase Rodinia – choose the appropriate Rodinia panel and make the purchase at any Damian Medical Center location or online. You may take the test individually or as a couple with your partner.
• Come for a cheek swab during the collection point’s working hours at one of our locations. You do not need to be fasting or discontinue your medications.
• ATTENTION! The test consists of collecting a swab from the inside of the cheek and does not require preparation; however, it is important to follow a few rules to avoid sample disqualification.
• You must not smoke, eat, drink (except water), brush your teeth, use mouthwash, or chew gum within 60 minutes before sample collection.
• The collected material is sent for analysis to modern Medicover Genetics laboratories in Cyprus.
• You will receive your result within 2–4 weeks from the moment the sample reaches the laboratory. The result will be sent to the email address you provided.
• FREE GENETIC CONSULTATION – after receiving the report, you may discuss your result with a clinical geneticist within 3 months of receiving the report.

How long does it take to get the result and how to interpret it?

You will receive your result within 2–4 weeks.

The report includes only variants classified as pathogenic, likely pathogenic or of uncertain significance (VUS) according to ACMG guidelines. The result may indicate:

• a clinically significant variant was detected – meaning a pathogenic or likely pathogenic variant associated with infertility;
• no clinically significant variant was detected – no infertility-related changes were found in the tested genes;
• a variant of uncertain significance (VUS) was detected – a genetic change whose impact on fertility is currently unclear. Carrier status for recessive diseases is not reported. After completing the test, a genetic consultation is crucial to properly interpret the result and plan further steps.

How can the Rodinia test help you?

The genetic information provided by the Rodinia test regarding an individual’s or couple’s reproductive health may offer the following benefits:

• identify treatment options or clinical management strategies,
• enable early interventions to preserve fertility,
• provide a precise prognostic assessment, which may lead to a personalized plan of further management,
• identify the genetic cause of infertility,
• support the physician in selecting optimal treatment for the patient or couple,
• increase the chances of achieving pregnancy.

Technical details / methods

• Detected mutations: Single nucleotide variants (SNVs), small insertions and deletions (INDELs ≤30 bp), copy number variants (CNVs), X and Y chromosome aneuploidies (copy number changes) and structural alterations from 10 Mb.
• Detected sex chromosome mosaicism down to 15%.
• Fragile X syndrome (FMR1): fragment analysis (PCR) to determine the number of CGG repeats.
• Y chromosome microdeletions: MLPA method, detection of deletions/duplications in AZFa, AZFb, and AZFc regions.
• Reference genome: GRCh37
• Coding region coverage: >97% at a minimum depth of 20x
• The test uses data from: gnomAD, ExAC, ClinGen, DECIPHER and others
• Variant classification: compliant with ACMG guidelines
• Sensitivity and specificity of SNV detection: sensitivity 100% (range 87–100%), specificity 100% (range 99.9–100%).