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Fertility Testing > Genetic Testing

Genetic Testing

Genetic factors contribute to male infertility. Dr. Marmar performs genetic tests for specific problems and refers patients to genetic counseling as appropriate.

Y Chromosome Micro-deletions - The male sex chromosome is known as the Y chromosome and it contains the genes that are important for sperm production. Deletions of some genetic material may be responsible for a lack of sperm production. The Laboratory performs genetic testing to determine Y chromosome micro-deletions. Even patients with these micro-deletions are potential candidates for in vitro fertilization.

Cystic Fibrosis Mutations - The genes that are responsible for the childhood disease, Cystic Fibrosis, are located on chromosome 7. In the same region on chromosome 7, other genes are found which are responsible for the development of the vas deferens of the male. Men with congenital absence of the vas are sterile because there is no way for sperm from the testicle to reach the ejaculate without the vas tubes. Nevertheless, sperm may be extracted from these men and used for ICSI.

Karyotype Screening- It is possible to examine the chromosomes or karyotypes for various types of abnormalities. There may be extra chromosomes or there may be extra portions of chromosomes. These abnormalities may cause sterility, infertility or even recurrent miscarriages. Whenever a genetic problem is suspected, a karyotype screening is advised.

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