Rodinia - genetic panel for female infertility

What is the Rodinia test?

Rodinia is a genetic test that detects changes in genes associated with female infertility. The panel analyzes the complete coding sequences of 55 genes and assesses sex chromosome aneuploidies, including changes in number, structural alterations, and mosaic variants. This test not only enables an accurate diagnosis but also helps plan 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 allows determining the genetic cause of infertility.

Who is the Rodinia – Female Infertility test for?

• couples or individuals experiencing difficulties conceiving,
• individuals with a specific phenotype indicating a genetic syndrome related to sex chromosome aneuploidy,
• women with irregular menstrual cycles or absence of menstruation,
• any individual or couple planning treatment using assisted reproductive technology (ART),
• women who are candidates for oocyte donation,
• individuals with a family history of infertility,
• women with primary ovarian insufficiency, polycystic ovary syndrome, or ovarian hyperstimulation syndrome.

How to prepare for the test?

• No special preparation is required. You do not need to be fasting or discontinue your medications. A doctor’s referral is not required.
• After purchasing the test, you should visit the selected facility during its 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 perform the test individually or as a couple with your partner.
• Come for an inner cheek swab during collection point hours at one of our locations. You do not need to be fasting or discontinue your medications.
  ATTENTION! The test involves collecting a swab from the inside of the cheek and does not require preparation, but it is important to follow a few key rules to avoid disqualification of the sample.
  Do 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 results within 2–4 weeks from the moment the sample reaches the laboratory. The test report will be sent to the email address provided.
• FREE GENETIC CONSULTATION – after receiving your report, you may discuss the results with a clinical geneticist within 3 months of obtaining the report.

How long does it take to receive the results and how to interpret them?

• Waiting time for results: 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 identified 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 results 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 precise prognostic assessment, which may help create a personalized plan for 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 variations (CNVs) – X chromosome copy number changes (aneuploidies) 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.
• Reference genome: GRCh37
• Coding region coverage: >97% at a minimum depth of 20x
• 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%)