FertiGenes Test™Recurrent Pregnancy Loss Test -

What is FertiGenes Test™?

FertiGenes Test™ Female Infertility is a genetic test for women planning a pregnancy. It has been designed for couples seeking to become parents. The test allows for determination of mutations present in the woman’s DNA and how they could affect the pregnancy and the baby’s health. Human fertility has a variety of associated genes, and knowledge of a couple’s genetic status can help them specify the prognosis for a natural pregnancy, properly plan any possible treatment, reduce the risk of miscarriage and support them in their effort to deliver healthy children.

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Male Infertility

FertiGenes Test™ Male Infertility is a genetic test for men planning to become fathers. It has been designed for couples seeking to become parents. The test allows for determination of mutations present in the man’s DNA and how they could affect the pregnancy and the baby’s health.

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Limitations

This test was designed to detect aneuploidies and imbalance resulting from Robertsonian translocations. It does not detect segmental aneuploidies, germline mosaicism related to aneuploidy, structural chromosome defects (e.g. deletion of the chromosome part, inversion, duplication), uniparental disomy, triploidy, tetraploidy.

Literature

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4. Ronfani L., Bianchi M.E. Molecular mechanisms in male determination and germ cell differentiation. CMLS, Cell. Mol. Life Sci. 61 (2004) 1907-1925.
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8. Bouligand J. et all. Isolated Familial Hypogonadotropic Hypogonadism and a GNRH1 Mutation. N. Engl. J. Med. 360; 26; 2742-2748.
9. Lanfranco F., Gromoll J., von Eckardstein S., Herding E.M., Nieschlag E., Simoni M. Role of sequence variation of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. Eur. Jour. Of Endocr. (2005) 153, 845-852.
10. Arnhold I.J., Lofrano-Porto A., Latronico A.C. Inactivating Mutation of Luteinizing Hormone ß- Subunit or Luteinizing Hormone Receptor Cause Oligo-Amenorrhea and Infertility in Women. Horm Res 2009; 71: 75-82.
11. Mukherjee S., Ridgeway A., Lamb D.J. Dna mismatch repair and infertility. Curr Opin Urol. 2010 November; 20 (6): 525-532.
12. Perry J.R.B et all. DNA mismatch repair gene MSH6 implicated in determining age at natural menopause. Hum. Mol. Gen. 2014, Vol.23, No. 9, 2490-2497.
13. Warcoin M. et all. Fertility Defects Revealing Germline Biallelic Nonsense NBN Mutations. Hum Mutat 2009 (30), 424-430.
14. Chassot A.A., Gregoire E.P., Magliano M., Lavery R., Chaboissier M.C. Genetics of Ovarian Differentiation: Rspo1, a Major Player. Sex Dev 2008; 2: 219-227.
15. Huang B., Wang Sh., Ning Y., lamb A.N., Bartley J. Autosomal XX sex reversal caused by duplication of SOX9. American Jour. Od Med. Gen. 1999, 87: 349- 353.
16. Heikkilä M., Peltoketo H., Vainio S. Wnts and the female reproductive system. Jour. Of Exp. Zoology 2001, 290: 616-623.
17. Layman L.C. Human gene mutations causing infertility. J. Med. Genet. 2002; 39: 153-161.
18. Matzuk M.M, Lamb D.J. The biology of infertility: research advances and clinical challenges. Nature Medicine, Nov. 2008, Vol. 14, No. 11, 1197-1213.

Documents

FertiGenes Test™. Genetic diagnosis for infertility and recurrent miscarriages.