Rodinia – Male Infertility Panel (40 Genes)

General Information

Sampling for research will be done:

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

Samples will be sent on Friday afternoon! For this, the sample must be sent to the central laboratory by Friday 12:00.

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.

When is the survey conducted?

Rodinia – Genetic research for infertility can help:

• Identify genetic causes of infertility
• Provide accurate forecasting
• To determine the optimal treatment plan for the couple or individual
• Resolve the need for intervention in a timely manner

Male infertility panel (40 genes) Includes:

• X and Y chromosome research
• Detection of Y chromosome microdeletions
• The manifestation of hypogonadotropic hypogonadism (Kalman syndrome)

Who is being researched?

• Problems getting pregnant or maintaining a pregnancy
• Disorders associated with sex chromosome aneuploidy (quantitative changes)
• Men with impaired sperm count and/or motility
• Sperm donors
• People with a family history of infertility

Men with non-obstructive azoospermia or severe oligozoospermia (<5 million/mL) are at high risk of genetic abnormalities and are recommended to undergo karyotyping and Y chromosome analysis.

The male infertility panel examines 40 genes, as well as X and Y chromosome aneuploidies, including Y chromosome microdeletions.

 The male infertility panel provides diagnostics for the following diseases:

• Non-obstructive azoospermia (including Y chromosome microdeletions)
• Diseases with hypogonadotropic hypogonadism (e.g. Kallmann syndrome)
• Congenital bilateral absence of the vas deferens
• Disorders of sexual development

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