Rodinia – Female Infertility Panel (55 genes)

General Information

Sampling for research will be done:

• In the regions:  On Wednesday   
• In Tbilisi: on Wednesday and/or Thursday (in the first half of the day)

Samples will be shipped on Thursday afternoons! For this, the sample must be at the central laboratory by 12:00 on Thursday

What is Rodinia?

Rodinia is a study that provides screening for genetic mutations associated with infertility.

Infertility is a major pathology of the reproductive system in which conception and maintenance of pregnancy are difficult or impossible.

Worldwide, 6 in every 1 couples experience infertility. 35% of infertility cases are due to male infertility, and 45% to female infertility. The remaining cases are the result of a combination of both causes.

Infertility has many different causes, including genetic ones. Laboratory studies, ultrasound imaging, and sperm analysis reveal 65% of infertility cases. Genetic causes of infertility are observed in 10-15% of men and women.

Genetic tests for infertility investigate these causes, allowing for informed decision-making and optimal clinical management of the condition.

The Rodinia – Female Infertility Panel tests for single nucleotide variants, insertions and deletions, and copy number variants in genes associated with female infertility. The panel also detects complete, partial, and mosaic changes in sex chromosomes.

Who is Rodinia intended for?

• For individuals with fertility problems
• For individuals with a specific phenotype who have a genetic syndrome associated with sex chromosome aneuploidy
• During irregular or absent cycles
• For people in need of assisted reproductive treatment
• For oocyte (egg) donors
• For individuals with a family history of infertility

How many genes does the Rodinia female infertility panel test for?

The Rodinia Female Infertility Panel tests for 55 genes as well as X chromosome aneuploidies.

What diseases are associated with the genes examined by this panel?

• Primary ovarian insufficiency
• Polycystic ovary syndrome
• Ovarian hyperstimulation syndrome
• Hypogonadotropic hypogonadal disorders, such as Kallmann syndrome
• Disorders of sexual development

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