1. Y Chromosome Abnormalities $305.00

The Y chromosome contains some important genetic information required for the formation and function of the testes. There are genes on the Y chromosome that affect the production of sperm by the testes. Research has shown that between 10%–20% of males presenting without sperm in the ejaculate carry deletions of Y chromosome DNA. A smaller, but significant, percentage of men with very reduced sperm counts (approximately 5%) also carry similar deletions. The identification of such deletions provides a diagnosis in these patients. In addition, patients carrying Y chromosome deletions and considering ICSI can be counseled as to the risk of infertility in their male offspring.

2. Cystic Fibrosis Gene Mutations With 5T Variance Analysis $300.00

Cystic fibrosis (CF) is the most common life-threatening autosomal-recessive inherited disease in the white population, with a carrier frequency of 4% (1 in 25) and affecting approximately 1 in 2,000 live births. Patients with symptomatic CF present with progressive lung disease and pancreatic abnormalities. Most people have two normal copies of the CF gene, while patients with CF have severe abnormalities of both copies. Mutations of the CF gene are associated with some male reproductive tract abnormalities, such as absence of the vas deferens (the tubes involved in sperm transport from the testicles to the exterior). It has recently been discovered that 80% of men with bilateral absence of the vas deferens possess abnormalities of the CF gene (not to be confused with having CF). Once again, patients with absence of the vas deferens usually have no associated medical problems and are otherwise well, and they often present only because of their infertility. In addition, recent studies suggest that men with otherwise unexplained decreased sperm counts may have an increased presence of CF gene abnormalities. Identification of these findings will help determine choices for treatment, as well as estimating the risk of transmitting CF to offspring.

3. Karyotyping and High-Resolution Chromosomal Banding $500.00

The karyotyping and high-resolution chromosomal banding analysis examines both the number and the structure of the chromosomes through microscopic examination and analysis. This test can provide information about whether extra chromosomes are present, whether a chromosome has been lost, whether the information on the chromosomes has been rearranged, or whether large deletions of DNA are present. Abnormalities in the number of chromosomes or the arrangements of genes on the chromosomes can influence male fertility. Identification of these abnormalities may provide a diagnosis, as well as provide implications for treatment.