Short Description

NGS genetic DNA test detecets for variant and mutation detection in CFTR gene for Congenital bilateral absence of vas deferens

PreTest Information

Clinical History of Patient who is going for CFTR Gene Congenital bilateral absence of vas deferens NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CFTR Gene Congenital bilateral absence of vas deferens NGS Genetic DNA Test gene CFTR

Detail Description

CFTR Gene Congenital Bilateral Absence of Vas Deferens NGS Genetic DNA Test

CFTR (cystic fibrosis transmembrane conductance regulator) gene is responsible for the production of a protein that regulates the flow of salt and water in and out of the cells. Congenital bilateral absence of vas deferens (CBAVD) is a genetic condition that affects the male reproductive system. It is caused by mutations in the CFTR gene that result in the absence of the vas deferens, which is the tube that carries sperm from the testes to the urethra.

CBAVD is a rare condition that affects about 1-2% of infertile men and is often diagnosed during infertility testing. Men with CBAVD are usually infertile but can still produce healthy sperm. The condition is also associated with an increased risk of developing cystic fibrosis, a life-threatening genetic disorder that affects the lungs, pancreas, and other organs.

NGS Genetic DNA Test

NGS (next-generation sequencing) genetic DNA test is a powerful tool that can be used to identify mutations in the CFTR gene. The test uses advanced sequencing technology to analyze the entire coding region of the CFTR gene and can detect all types of mutations, including deletions, duplications, and point mutations. The NGS genetic DNA test is highly accurate and can detect mutations that may be missed by other genetic tests.

Symptoms of CBAVD

Most men with CBAVD do not have any symptoms other than infertility. However, some men may experience symptoms such as:

• Pain or swelling in the testes
• Low sperm count
• Absence of seminal vesicles
• Abnormalities in the epididymis

Diagnosis of CBAVD

CBAVD is usually diagnosed during infertility testing. The diagnosis is confirmed by a physical examination and imaging tests such as ultrasound or MRI. Genetic testing is also recommended to identify mutations in the CFTR gene.

DNA Labs India Test Cost

DNA Labs India offers the NGS genetic DNA test for CFTR gene congenital bilateral absence of vas deferens at an affordable cost of INR 20,000. The test is performed by expert geneticists using state-of-the-art sequencing technology. The results of the test are highly accurate and can provide valuable information for diagnosis and treatment.

Conclusion

CFTR gene congenital bilateral absence of vas deferens is a rare genetic condition that affects male fertility. The NGS genetic DNA test offered by DNA Labs India can help diagnose the condition and identify mutations in the CFTR gene. The test is affordable, highly accurate, and can provide valuable information for diagnosis and treatment. If you suspect that you or your partner may have CBAVD, talk to your doctor about getting tested.