Up to 15% of men have a genetic mutation (change in the DNA) which is linked with infertility.
Rodinia male panel screens for single nucleotide variants, insertions and deletions, as well as copy number variants in genes associated with male infertility. The panel also detects whole, partial and mosaic sex chromosome changes. Infertility genetic testing can guide treatment or clinical management options, enable early interventions to preserve fertility, and provide accurate prognostic assessment which can lead to a personalized clinical course of action.
Who is this test for?
• Individuals experiencing pregnancy delay
• Individuals with specific phenotype indicating a genetic syndrome associated with a sex chromosome aneuploidy
• Individuals with low sperm count, irregular sperm form, or movement
• Individuals that will undergo assisted reproductive technology (ART) treatment
• Candidates for sperm donation
• Individuals with family history of infertility
Recommendations by professional bodies
Men with nonobstructive azoospermia or severe oligozoospermia (<5 million/mL) are at increased risk for having a definable genetic abnormality and should be offered karyotype and Y-chromosome analysis before performing ICSI with their sperm. (Practice Committee of the American Society for Reproductive Medicine, 2015)
• Diagnostic evaluation of the infertile male: a committee opinion, Fertility and Sterility, Volume 103, Issue 3,2015, Pages e18-e25, ISSN 0015-0282, https://doi.org/10.1016/j.fertnstert.2014.12.103
• Dukhovny S, Wilkins-Haug L. Genetic Basis of Female Infertility. In: Murray MF, Babyatsky MW, Giovanni MA, Alkuraya FS, Stewart DR. eds. Clinical Genomics: Practical Applications in Adult Patient Care, 1e. McGraw Hill; 2014. Accessed March 29, 2023. https://accessmedicine.mhmedical.com/content.aspx?bookid=1094§ionid=61904709
• Patel, B., Parets, S., Akana, M. et al. Comprehensive genetic testing for female and male infertility using next-generation sequencing. J Assist Reprod Genet 35, 1489–1496 (2018). https://doi.org/10.1007/s10815-018-1204-7
How many genes are tested in this panel?
40 genes, plus X and Y chromosome aneuploidies, including Y-chromosome microdeletions
What diseases are associated with the genes tested in this panel?
• Non-obstructive azoospermia (including Y-chromosome microdeletions)
• Hypogonadotropic hypogonadism disorders, such as Kallmann syndrome
• Congenital bilateral absence of the vas deferens
• Disorders of sexual development