Rodinia - genetic panel for infertility testing (couple's test) + Neonatal Thrombocytopenia and Thrombophilia

What is the Rodinia test?  

Rodinia is a genetic test that allows the detection of changes in genes associated with infertility in both women and men. The male panel includes the analysis of 40 genes and the evaluation of sex chromosomes X and Y, including Y chromosome microdeletion. The female panel analyzes the full coding sequence of 55 genes and evaluates sex chromosome aneuploidies, including changes in number, structural changes, and mosaicism. Rodinia tests allow for the precise determination of the genetic cause of infertility, enabling the planning of personalized treatment, including assisted reproductive procedures (e.g., IVF with preimplantation genetic testing PGT-M). The tests are completely safe and non-invasive, and their results provide key information for further clinical management. The thrombophilia and NAIT panel is an important complement to infertility diagnostics in couples, as it allows for the identification of genetic and immunological factors that may affect the course of pregnancy and its maintenance – a total of 22 variants in 17 different genes are analyzed.

Who is the Rodinia test for? – infertility testing

• Couples or individuals experiencing difficulty conceiving,
• Individuals with a specific phenotype indicating a genetic syndrome associated with sex chromosome aneuploidy,
• Women with irregular cycles or absence of menstruation,
• Men with low sperm count, abnormal sperm morphology, or motility,
• Any individual or couple planning treatment using assisted reproductive technology (ART),
• Candidates for sperm or oocyte donation,
• Individuals with a family history of infertility,
• Women with primary ovarian insufficiency, polycystic ovary syndrome, or ovarian hyperstimulation syndrome,
• Patients suspected of hypogonadotropic hypogonadism disorders, such as Kallmann syndrome.

The Thrombophilia and NAIT (Neonatal Immune Thrombocytopenia) panel tests specific genetic changes associated with recurrent miscarriages. It is particularly intended for:

• Couples or individuals experiencing recurrent miscarriages
• Individuals with early onset or a positive family history of thrombotic events
• Individuals with recurrent episodes of thrombosis,
• Newborns with thrombocytopenia,
• Newborns with unexplained thrombosis.

How should you prepare for the test?

• The test does not require special preparation. You do not need to fast or stop taking any medications. A doctor's referral is not required.
• After purchasing the test, you should go to a collection point during the working hours of the chosen facility for an oral epithelial swab collection.
• You can take the test within 3 months of purchasing it (counting from the date indicated in the order confirmation).

How is the test performed?

• Buy Rodinia – choose the appropriate Rodinia panel and make the purchase at any Centrum Medyczne Damiana facility or online. You can perform the test individually or with your partner.
• Come for an inner cheek swab collection during the working hours of the collection point at one of our facilities. You do not need to fast or stop taking any medications.
  IMPORTANT! The test involves collecting a swab from the inside of the cheek and requires no special preparation, but it is important to know a few key points to avoid disqualifying the sample collected.
  You must not smoke, eat, drink (except water), brush your teeth, use dental liquid, or chew gum within 60 minutes before the sample collection.
• The collected sample is sent for analysis in advanced Medicover Genetics laboratories in Cyprus.
• You will receive the result 2 – 4 weeks after the sample arrives at the laboratory. The result will be sent to the previously provided email address.
• FREE GENETIC CONSULTATION – After receiving the test report, you can discuss the result with a clinical geneticist within 3 months of receiving the report.

How long do you wait for the result and how to interpret it?  

You will receive the result in 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:

• Clinical significance detected – a pathogenic or likely pathogenic variant associated with infertility;
• No clinically significant variant detected – no changes associated with infertility in the tested genes;
• Uncertain significance variant detected (VUS) – a genetic change whose impact on fertility is currently unclear. Carrier status for recessive diseases is not reported. After 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 about an individual or couple's reproductive health can provide the following benefits:

• Identify treatment or clinical management options
• Enable early interventions to preserve fertility
• Provide a precise prognostic assessment, leading to a personalized action plan
• Identify the genetic cause of infertility,
• Assist the doctor in selecting the optimal treatment for the couple or patient
• Increase the chances of achieving pregnancy

Additionally, the thrombophilia and NAIT panel will allow you to:

• Identify miscarriage risk – detects mutations increasing the risk of early and late miscarriages.
• Assess thrombosis risk – allows the detection of predispositions to thrombotic events in the patient and their family.
• Prevent pregnancy complications – enables the implementation of treatment (e.g., anticoagulants, hormonal therapy) to reduce the risk of miscarriage and complications during childbirth.
• Early diagnosis of NAIT – identifies the risk of alloimmune neonatal thrombocytopenia, which can lead to intracranial hemorrhages.
• Personalized clinical management – the test results help the doctor select the best treatment and monitoring plan for pregnancy.

Technical data / methods

• Detected mutations: Single nucleotide variants (SNVs), small insertions and deletions (INDELs ≤30 bp), copy number variations (CNVs) – X and Y chromosomes for copy number changes (aneuploidies) and structural changes from 10 Mb.
• Detectable mosaicism in sex chromosomes up to 15%
• Fragile X syndrome (FMR1): analysis of fragments (PCR) to determine the number of CGG repeats
• Y chromosome microdeletions: MLPA method, detection of deletions/duplications in the AZFa, AZFb, AZFc regions
• Thrombophilia and NAIT panel: detects a total of 22 variants in 17 different genes.
• Reference genome: GRCh37
• Coverage: >97% with a depth of at least 20x
• The test uses data from databases: gnomAD, ExAC, ClinGen, DECIPHER, and others
• Variant classification: in accordance with ACMG guidelines
• SNV detection sensitivity and specificity: sensitivity 100% (range 87-100%), specificity 100% (range 99.9-100%)