OVERVIEW

WHAT IS RODINIA?

Rodinia is a test that screens for genetic changes (mutations) associated with infertility.
Infertility is the inability to achieve and maintain a pregnancy and is considered a major disease of the reproductive system. Infertility affects approximately 1 in 6 couples worldwide. In couples experiencing pregnancy delay, male infertility accounts for about 35% and female infertility for about 45% of the cases. The remaining cases are caused by a combination of male and female factor.

Infertility can be caused by many reasons, including genetic changes. Biochemical and instrumental testing, such as hormone checks, ultrasounds and semen analysis can identify up to 65% of infertility cases. 10-15% of men and women have genetic changes associated with infertility. Infertility genetic testing can identify these changes, providing your healthcare provider with invaluable knowledge that will help them take informed and accurate decisions on the best clinical management for you, which will help increase your chances of conceiving.

WHY GET TESTED?

Rodinia can help:
Identify the genetic cause for infertility
Enable accurate prognosis
Assist the healthcare provider in deciding the most optimal treatment for a couple or an individual
Increase the chances of a successful pregnancy
Inform on potential complications from treatment, such as ovarian hyperstimulation syndrome
Inform if early interventions will be beneficial

WHO COULD BENEFIT FROM RODINIA?


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Couples or individuals
experiencing delay in conceiving

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Women with irregular
or absent menstruation

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Men with low sperm count,
irregular sperm form or movement

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Individuals with external characteristics
indicating a syndrome associated
with sex development

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Couples or individuals that
will undergo assisted reproductive
technology (ART) treatment

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Candidates for sperm
or oocyte donation

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Individuals with a
family history of infertility

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Couples or individuals with
more than one miscarriage
Applicable only for the
Thrombophilia & NAIT panel

WHAT DOES RODINIA TEST FOR?

Rodinia offers a Female and a Male Infertility Panel which detect numerous​ genetic mutations associated with infertility. Both panels also test for whole,​ partial and mosaic* sex chromosome changes which can cause fertility​ problems.

Rodinia also offers a Thrombophilia and NAIT Panel that checks​ for specific genetic changes associated with recurrent pregnancy loss.​

*Mosaicism: Two or more genetically different sets of cells (in an individual)​

RODINIA PANELS

FEMALE INFERTILITY PANEL (55 genes)

Includes testing of the X chromosomes, and disorders such as primary ovarian insufficiency, polycystic ovary syndrome, hypogonadotropic hypogonadism and ovarian hyperstimulation syndrome.

MALE INFERTILITY PANEL (40 genes)

Includes testing of X and Y chromosomes, including Y-chromosome microdeletions, and disorders such as hypogonadotropic hypogonadism, like Kallmann syndrome.

THROMBOPHILIA & NAIT PANEL

Can be beneficial for couples or individuals with more than one miscarriage, or with a family history of Neonatal Alloimmune Thrombocytopenia (NAIT), among other reasons. Can be selected as an Add-on panel to the Female or Male panel, or as a stand-alone panel.

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FEMALE INFERTILITY PANEL

Testing of 55 genes and whole, partial and mosaic sex chromosome aneuploidies. Disorders tested include primary ovarian insufficiency, ovarian hyperstimulation syndrome and hypogonadotropic hypogonadism such as Kallmann syndrome.

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MALE INFERTILITY PANEL

Testing of 40 genes and whole, partial and mosaic sex chromosome aneuploidies, including Y chromosome microdeletions. Disorders tested include hypogonadotropic hypogonadism such as Kallmann syndrome.

Download here

THROMBOPHILIA AND NAIT PANEL

Testing for 22 genetic variants in 17 genes. Can be selected as an Add-on Panel to the Female or Male Panel, or as a Stand-alone Panel.

Download here

WHY CHOOSE RODINIA?

Rodinia provides valuable genetic insight that could improve the chances of achieving pregnancy

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Identifies infertility-causing
genetic changes

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Guides the healthcare provider
to find the best therapy or
clinical management
for each couple or individual

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Uses painless and
non-invasive collection method

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Delivers time-sensitive and
cost-effective genetic information

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Easy to interpret report

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Utilizes superior targeted
genomic analysis, providing
high precision and accuracy results

HOW CAN INFERTILITY GENETIC TESTING IMPROVE PROGNOSIS?

By identifying the genetic cause of infertility, genetic testing can lead to a more personalized clinical management, and assist in establishing the most fitting fertility treatment for each individual or couple.

FEMALE FERTILITY PANEL
55 genes, X chromosome aneuploidies

In women with primary ovarian insufficiency, genetic testing provides early identification which is invaluable as egg harvesting and cryopreservation at a young age can be performed to preserve fertility.

MALE INFERTILITY PANEL
40 genes, X and Y chromosome aneuploidies, including Y chromosome microdeletion

In men with azoospermia, genetic testing of the Y chromosome is recommended by the American Society for Reproductive Medicine, as it can identify which men have a chance of recovering sperm through testicular sperm extraction*.

*Practice Committee of the American Society for Reproductive Medicine. Diagnostic evaluation of the infertile male: a committee opinion (2015)

POSSIBLE OUTCOMES OF THE TEST

The Rodinia report will have information on the following:
Results on genes tested
Thorough interpretation and clinical significance of mutations detected

Rodinia reports on pathogenic and likely pathogenic variants, as well as variants of uncertain significance
Carrier status will not be reported for recessive conditions
VUS will only be reported in cases of potential pathogenicity
The Thrombophilia & NAIT panel reports the genotype for the variants tested

WHAT CAN I DO AFTER RODINIA INFERTILITY TESTING?

Depending on the Rodinia results, the most beneficial treatment or clinical management for you can be decided

Lifestyle changes
eg. Maintain a healthy body weight, quit smoking, avoid alcohol

Medication
eg. Ovulation induction drugs, hormones

Surgical procedure
eg. Testicular sperm extraction

Cryopreservation
eg. Oocyte harvesting at a young age to preserve fertility

Assisted reproductive technology
eg. In vitro ferrtilization

HOW CAN I TAKE THE RODINIA INFERTILITY TEST?
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Ask your healthcare provider about Rodinia

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Your healthcare provider will collect the sample using a buccal swab

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The sample will be sent to our laboratory

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The sample will be analyzed in our laboratory

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Results will be sent to your healthcare provider within 2-4 weeks from sample receipt

ACCEPTED MATERIAL

Buccal swab collection device, which is provided in the Rodinia kit

TURNAROUND TIME

2-4 weeks from sample receipt in our laboratory

TECHNOLOGY

This information applies for the Rodinia Female and Male Panels

gDNA is extracted using a standardized methodology and subjected to mechanical fragmentation prior to DNA library preparation. DNA enrichment for the genomic regions of interest is carried out using a solution-based hybridization method, followed by next generation sequencing (NGS). Single nucleotide variants, small insertions and deletions (≤30bp), and copy number variations (CNVs) are reported. All positive CNVs are confirmed using an orthogonal method. The test aims to detect all coding exons, of MANE and/or Canonical transcripts, and 10bp of adjacent intronic sequence.
Exceptions may include: regions containing repeats, sequences of high homology such as segmental duplications and pseudogenes, as well as regions of extreme GC-content.

Variants are classified according to the criteria set by the American College of Medical Genetics and Genomics. Classification and interpretation of variants is performed using the Varsome Clinical platform, and is according to the published knowledge at the time of testing.

• Mosaicism detection in sex chromosomes down to 15%.
• X and Y chromosome analysis for whole copy number changes, and partial changes down to 10Mb.
• Testing for Fragile X syndrome is performed via Fragment analysis (PCR) to determine the size of the CGG repeat within the FMR1 gene.
• Testing for chromosome Y microdeletions is performed via MLPA and detects deletions/duplications in AZFa, AZFb and AZFc regions.

Test Methodology
SEQUENCING

Next generation sequencing (Illumina)

ENRICHMENT

Proprietary Target Capture Enrichment Technology (Click here to see our Publications)

SNV AND CNV DATA ANALYSIS

GATK and Vardict variant callers. Targeted CNV calling using a proprietary bioinformatics pipeline utilizing a circular binary segmentation algorithm

DATA EVALUATION

Varsome Clinical by Saphetor

REFERENCE GENOME

hg19, NCBI GRCh37

QUALITY CRITERIA

>30 (precision 99,9%)
Minimum percentage of bases with RD greater than 20X = 97%

SNV DETECTION SENSITIVITY

Sensitivity: 100% (87-100%)
Specificity: 100% (99.9%-100%)

CLASSIFICATION OF VARIANTS

Richards et al. 2015, Genet Med 17:405; ClinGen Sequence Variant Interpretation Recommendation for PM2-Version 1.0; Tavtigian SV et al. 2020, Hum Mutat 41(10); Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines; Pejaver V et al. 2022, bioRxiv;

IN SILICO ALGORITHMS

ALoFT, BayesDel, DEOGEN2, Eigen, Eigen-PC, FATHMM, FATHMM-XF, FATHMM-MKL, fitCons, LIST-S2, LRT, M-CAP, MetaLR, MetaRNN, MetaSVM, MPC, MutationAssessor, MutationTaster, MutPred, MVP, Polyphen-2, PrimateAI, PROVEAN, REVEL, SIFT, SIFT4G, dbscSNV

DATABASES

More than 100 datasets including ClinVar, gnomAD, ExAC, ClinGen, DECIPHER, etc

SUPPORTING DOCUMENTS

(click to download)
Rodinia Panels Genes Tested

OUR TESTS

Genes: AIRE, ANOS1, BMP15, CAPN10, CHD7, CYP11A1, CYP17A1, CYP19A1, DENND1A, DUSP6, EIF2B2, EIF2B3, FEZF1, FGF8, FGF17, FGFR1, FIGLA, FLRT3, FMR1, FOXL2, FSHB, FSHR, GALT, GDF9, GNAS, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, INS, INSR, IRS1, IRS2, KISS1, KISS1R, LHB, LHCGR, NOBOX, NR5A1, NSMF, POF1B, POLG, PROK2, PROKR2, PSMC3IP, SEMA3A, SPRY4, STAG3, TAC3, TACR3, THADA, WDR11, WT1, ZP1

Genes: ANOS1, AR, AURKC, CATSPER1, CFTR, CHD7, DAZL, DDX25, DUSP6, FEZF1, FGF8, FGF17, FGFR1, FLRT3, FMR1, FSHB, FSHR, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, LHCGR, NR5A1, NSMF, PRM1, PROK2, PROKR2, SEMA3A, SPRY4, SRD5A1, SRY, TAC3, TACR3, USP26, USP9Y, WDR11

Genes: NM_000130.4(F5):c.1601G>A (p.Arg534Gln). NM_000130.4(F5):c.3980A>G (p.His1327Arg). NM_000129.3(F13A1):c.103G>T (p.Val35Leu). NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro). NM_000173.7(GP1BA):c.482C>T (p.Thr161Met). NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser). NM_000212.2(ITGB3):c.506G>A (p.Arg169Gln). NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys). NM_000212.2(ITGB3):c.1544G>A (p.Arg515Gln). NM_000602.5(SERPINE1):c.-820G[(4_5)]. NM_005957.5(MTHFR):c.665C>T (p.Ala222Val). NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala). NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382. NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln). NM_000041.2(APOE):c.526C>T (p.Arg176Cys). NM_000041.4(APOE):c.388T>C (p.Cys130Arg). NM_000254.2(MTR):c.2756A>G (p.Asp919Gly). NM_002454.3(MTRR):c.66A>G (p.Ile22Met). NM_000029.4(AGT):c.803T>C (p.Met268Thr). NM_031850.3(AGTR1):c.*86A>C. NM_000852.4(GSTP1):c.313A>G (p.Ile105Val). NM_000506.5(F2):c.*97G>A.

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