Rodinia is a new genetic test for infertility that screens for mutations in
individuals who have difficulty achieving pregnancy. By
identifying genetic variants associated with infertility and disorders
of sex chromosomes, Rodinia can provide accurate prognostic assessment and
identify the most applicable treatment options for each patient. Rodinia
can help guide you towards an optimal treatment plan for any couple or
individual wishing to have a child.
WHAT DOES Rodinia TEST FOR?
Rodinia offers a female and a male infertility panel. Each panel detects numerous genetic variants associated with infertility.
Rodinia also detects whole, partial and
mosaic sex chromosome changes.
FEMALE INFERTILITY PANEL
55 genes, X chromosome aneuploidies
Screens for genetic variants associated with female infertility
and includes disorders such as primary ovarian
insufficiency, polycystic ovary syndrome, ovarian
hyperstimulation syndrome and hypogonadotropic hypogonadism disorders such as Kallman syndrome.
Early interventions to preserve fertility:
Early identification of women with primary ovarian insufficiency can determine the need for oocyte harvesting and
cyropreservation at a young age to preserve fertility
and enable the patient to have a child in the future.
MALE INFERTILITY PANEL
40 genes, X and Y chromosome aneuploidies, including Y-chromosome microdeletions
Screens for genetic variants that can cause male factor inferitlity, including sex chromosome changes
and hypogonadotropic hypogonadism disorders like Kallman syndrome.
Prognostic value for treatment: Azoospermic men have a higher prevalence of microdeletions on the Y-chromosome than men with normal sperm and should
receive genetic testing to clarify etiology prior to treatment*. Of the 3 deletions that are associated with azoospermia, only one is associated with
a chance of recovering sperm through testicular sperm extraction treatment
HAEMOPHILIA AND THROMBOSIS PANEL
22 genetic variants
Checks for specific genetic variants associated with recurrent pregnancy loss, to determine the need for taking treatment, such as hormonal therapy or anticoagulants, to reduce or prevent complications during pregnancy and delivery.
Can be offered to all individuals and can be beneficial to couples that have had more than one miscarriage.
*Practice Committee of the American Society for Reproductive Medicine. Diagnostic evaluation of the infertile male: a committee opinion (2015)
Couples or individuals experiencing
Individuals with specific phenotype indicating a genetic syndrome associated with a sex chromosome aneuploidy
Females with irregular or absent menstruation
Males with low sperm count, irregular sperm form, or movement
Any individual or couple that will undergo assisted reproductive technology (ART) treatment
Candidates for sperm or oocyte donation
Individuals with family history of infertility
HOW DOES GENETIC TESTING HELP ME?
Biochemical and instrumental testing, such as hormone checks, ultrasounds and semen analysis can identify up to 65% of infertility cases. If the cause of infertility remains undetermined, genetic testing can be offered as a significant
number of infertility cases are attributed to genetic variants.
Up to 15% of men and up to 10% in women have a genetic mutation which is linked with infertility. Genetic testing can provide deep
insight that acts as a valuable prognostic tool, and can guide you to take informed and accurate decisions on
the best clinical management and treatment for your patient. Genetic testing could subsequently help increase
the patient's chances for achieving a pregnancy.
X and Y chromosome analysis for whole copy number changes, and partial changes down to 10Mb
Mosaicism detection in sex chromosomes down to 15%
Full coverage of all coding regions, detecting single nucleotide variants, small insertions and deletions, and copy number variants
The add-on Haemophilia and Thrombosis panel targets specific variants
Novel bioinformatics for high sensitivity and specificity
WHAT WILL THE REPORT TELL ME?
Results on mutations tested
Thorough interpretation and clinical significance
of variants detected
Reporting pathogenic and likely pathogenic variants,
and variants of uncertain significance
Carrier status will not be reported for recessive conditions.
WHAT CAN I DO AFTER Rodinia ?
By identifying the underlying genetic cause of infertility, Rodinia can help you to:
Determine accurate prognosis for your patient
Evaluate and choose the most optimal treatment for your patient
Manage clinical care by being aware of potential complications, like ovarian hyperstimulation
Advice your patient on how to proceed with pregnancy planning
Recommend testing to family members, if applicable
WHY RECOMMEND Rodinia TO MY PATIENTS?
Infertility is considered a major disorder of the reproductive system and it affects approximately 1 in 6 couples worldwide†
Rodinia uses robust and proven technology to detect mutations on genes associated with infertility and changes
on sex chromosomes. Rodinia can provide important insight regarding the reproductive health of an individual and guide treatment
options to help them achieve conception.
Early detection of the underlying genetic cause of infertility can act as a prognostic tool and be pivotal to the choice and outcome of treatment.
Early detection can also determine the need for earlier interventions at a younger age, to
Rodinia provides invaluable genetic insight which can guide you to create a more personalized approach for family planning for each couple or individual.
Superior targeted genomic analysis
Identifies genetic mutations associated with infertility
Assessment of clinically actionable mutations
Guides patient-specific clinical management and treatment
Enables accurate prognosis
Easy to interpret results
High precision and accuracy
†Agarwal A., et al., 'A unique view on male infertility around the globe'. Reproductive biology and endocrinology, 2015.
HOW TO ADMINISTER
RECOMMEND Rodinia TO YOUR PATIENT
COLLECT A BUCCAL SWAB FROM YOUR PATIENT
SEND THE SAMPLE TO NIPD Genetics
THE SAMPLE WILL BE ANALYZED IN OUR LABORATORIES
RESULTS WILL BE SENT TO YOU WITHIN 2-4 WEEKS FROM SAMPLE RECEIPT
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