Symptoms and Testing information for CFTR Gene Congenital bilateral absence of vas deferens Genetic Test

Symptoms and Testing information for CFTR Gene Congenital bilateral absence of vas deferens Genetic Test

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations can lead to a variety of health issues, one of which is the congenital bilateral absence of the vas deferens (CBAVD). This condition can significantly impact male fertility, making it crucial for those affected to understand the symptoms, implications, and available testing options. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the CFTR gene associated with CBAVD, providing essential information for affected individuals and their families.

Understanding CBAVD

CAVD is a condition present from birth where one or both vas deferens, the tubes that carry sperm from the testes to the urethra, are missing. This absence can lead to infertility due to the physical blockage of sperm transportation. While CBAVD can be an isolated condition, it is often associated with cystic fibrosis (CF) due to mutations in the CFTR gene.

Symptoms of CBAVD

Men with CBAVD typically do not exhibit symptoms outside of infertility, making it a condition that is often discovered unexpectedly during fertility assessments. Key indicators include:

  • Low or absent volume of ejaculate
  • Difficulty conceiving naturally
  • Absence of the vas deferens felt during a physical examination

It’s important to note that individuals with CBAVD usually have normal sexual function and testicular size, with the primary issue being the transport of sperm.

The Role of the CFTR Gene

The CFTR gene is responsible for creating a protein that controls the movement of salt and water in and out of cells. Mutations in this gene can disrupt this process, leading to the thickening of mucus and other fluids in the body, which is a hallmark of cystic fibrosis. In the context of CBAVD, mutations in the CFTR gene can prevent the normal development of the vas deferens during fetal growth.

CFTR Gene Congenital Bilateral Absence of Vas Deferens Genetic Test

Understanding the genetic basis of CBAVD is crucial for affected individuals, as it can provide insights into fertility options and the risk of transmitting CF or CFTR-related disorders to offspring. DNA Labs UAE offers a genetic test specifically designed to detect mutations in the CFTR gene that are linked to CBAVD. This test involves a simple and non-invasive saliva or blood sample and can be a critical step in family planning and management of the condition.

Test Cost

The cost of the CFTR Gene Congenital Bilateral Absence of Vas Deferens Genetic Test at DNA Labs UAE is 4400 AED. This price includes comprehensive analysis and personalized counseling to discuss the results and implications.

Conclusion

For men experiencing infertility, understanding the underlying cause is essential. The CFTR Gene Congenital Bilateral Absence of Vas Deferens Genetic Test offered by DNA Labs UAE provides valuable insights into one potential cause of infertility, enabling individuals and couples to make informed decisions about their fertility and future family planning. For more information about the test and to schedule an appointment, visit DNA Labs UAE.

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