Male Reproductive Genetic Profile

Karyotype: Men with a sperm count less than 10 million/ml may have an issue with their chromosomes which would require them to have the Karyotype test to make sure that their Karyotype is 46 XY. Identifying these conditions is important as some issues may have a negative impact on the health of the affected individual and their baby after successful IVF. Some of the karyotype issues require Pre-implantation genetic diagnosis (PGD) during the IVF cycle in order to prevent the congenital defects in the baby.

Y chromosome analysis: Men with a sperm count less than 5 million/ml may also have an issue with the AZF genes on the Y chromosome. This test may affect the decision of whether or not to perform surgical sperm retrieval.

Cystic fibrosis screen (CFTR gene tests): Mutations of the cystic fibrosis gene are involved in male infertility. Some causes of male infertility such as absence of the vas deferens are considered to be mild incomplete forms of cystic fibrosis disease. It is of utmost importance to also screen the female partner of the affected male for CFTR gene mutations. If the female partner is found to be a carrier of a CFTR gene mutation, Pre-implantation genetic diagnosis (PGD) is necessary to avoid having a child with the full blown picture of cystic fibrosis disease.