FertiGenes Test™

Innovators in Reproductive Genetics!

FertiGenes Test™Genetic diagnosis for infertility and

recurrent miscarriages


FertiGenes Test™ Female InfertilityFertiGenes 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.


Female Infertility


Female Infertility cont.


FertiGenes Test™ 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.


Male Fertility


FertiGenes Test™ Miscarriages

FertiGenes Test™ Miscarriages is a genetic test for women who have experienced recurrent miscarriages.

About 15-20% of diagnosed pregnancies end in miscarriage, while almost 1% of couples trying for a baby experience recurrent miscarriages


Miscarriages


Miscarriages cont.


Cooperation step by step


Cooperation step by step cont.


Literature 1. Rey R., Lukas-Croisier C., Ladala C., Bedecarrás P. AMH/MIS: what we know already about the gene, the protein and its

regulation. Molecular and Cellular Endocrinology 211 (2003), 21-31 2. Josso N., Clemente N., Gouédard L. Anti-Müllerian hormone and its receptor. Molecular and Cellular Endocrinology 179 (2001),

25-32. 3. Bolcun-Filas E., Rinaldi V.D., White M.E., Schimenti J. Reversal of female nfertility by CHk2 ablation reveals the oocyte DNA

damage checkpoint pathway. Science. Jen. 31; 343 (6170): 533-536. 4. Ronfani L., Bianchi M.E. Molecular mechanisms in male determination and germ cell differentiation. CMLS, Cell. Mol. Life Sci.

61 (2004) 1907-1925. 5. Unhlenhaut N.H., Treier M. Foxl2 function in ovarian development. Mol. Genetics and Metabolism 88 (2006) 225-234 6. Simoni M., Casarini L. Genetics of FSH action: a 2014-and-beyond view. Eur. Jour. Of Endocr. (2014) 170, R91-R107. 7. Casarini L., Pignatti E., Simoni M. Effects of polymorphisms in gonadotropin and gonadotropin receptor genes on reproductive

function. Rev Endocr Metab Disord (2011) 12: 303-321. 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, No9, 2490-2497


Literature cont.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: 153-16118. 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.


INVICTA GENETICS Trzy Lipy 3, Gdansk 80-172 , PolandT. +48 58 58 58 804M. [email protected]. invictagenetics.com

About INVICTA GENETICSINVICTA is an experienced genetics laboratory (since 2000)

offering wide range PGD / PGS tests using state of art Next Generation Sequencing (NGS) techniques.

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