SCIENTIFIC BACKGROUND

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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

Category: Rodinia

Description

Scientific Background

Up to 10% of women have a genetic mutation (change in the DNA) which is linked with infertility.

Rodinia female panel screens for single nucleotide variants, insertions and deletions, as well as copy number variants in genes associated with female 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 irregular or absent menstruation

• Individuals that will undergo assisted reproductive technology (ART) treatment

• Candidates for oocyte donation

• Individuals with family history of infertility

Recommendations by professional bodies

Fragile X premutation carrier screening is recommended from the American College of Obstetricians and Gynecologists for women with a family history of fragile X-related disorders or intellectual disability suggestive of fragile X syndrome who are considering pregnancy or are currently pregnant. Women under 40 years old with unexplained ovarian insufficiency, or women with a family history of fragile X who are considering pregnancy or are currently pregnant are also recommended to have FMR1 premutation carrier screening. ACOG 2017

References

• Committee Opinion No. 691 Summary: Carrier Screening for Genetic Conditions. (2017). Obstetrics and gynecology, 129(3), 597–599. https://doi.org/10.1097/AOG.0000000000001948

• NORD. (n.d.). Fragile X Syndrome. National Organization for Rare Disorders. Retrieved October 2021, from https://rarediseases.org/rare-diseases/fragile-x-syndrome/

• 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&sectionid=61904709

• Cariati F, D'Argenio V, Tomaiuolo R. The evolving role of genetic tests in reproductive medicine. J Transl Med. 2019;17(1):267. Published 2019 Aug 14. doi:10.1186/s12967-019-2019-8

How many genes are tested in this panel?

55 genes, plus X chromosome aneuploidies

What diseases are associated with the genes tested in this panel?

• Primary ovarian insufficiency

• Polycystic ovary syndrome

• Ovarian hyperstimulation syndrome

• Hypogonadotropic hypogonadism disorders, such as Kallmann syndrome

• Disorders of sexual development