Short Description

NGS genetic DNA test detecets for variant and mutation detection in GJB2 gene for Deafness, autosomal recessive type 1A

PreTest Information

Clinical History of Patient who is going for EYA1 Gene Branchiootic syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EYA1 Gene Branchiootic syndrome type 1 NGS Genetic DNA Test gene EYA7

Detail Description

GJB2 Gene Deafness: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

GJB2 gene deafness, also known as autosomal recessive type 1A deafness, is a genetic disorder that affects the ability to hear. This condition is caused by mutations in the GJB2 gene, which provides instructions for making a protein called connexin 26. This protein is essential for normal hearing, as it forms channels that allow potassium ions to flow between cells in the inner ear.

Symptoms of GJB2 Gene Deafness

The symptoms of GJB2 gene deafness can vary depending on the severity of the condition. In some cases, individuals may experience mild to moderate hearing loss, while others may have profound deafness. The onset of symptoms can occur at any age, from infancy to adulthood. Common symptoms of GJB2 gene deafness include:

• Difficulty hearing speech or sounds
• Frequent ear infections
• Tinnitus (ringing in the ears)
• Delayed speech development in children

Diagnosis of GJB2 Gene Deafness

The diagnosis of GJB2 gene deafness typically involves a combination of physical examination, hearing tests, and genetic testing. During a physical exam, a healthcare provider will examine the ears and look for signs of structural abnormalities or infections. Hearing tests may include pure-tone audiometry, which measures the ability to hear different frequencies of sound, or speech audiometry, which evaluates the ability to hear and understand speech.

Genetic testing is also an important part of the diagnosis process for GJB2 gene deafness. This may involve a targeted genetic test to detect mutations in the GJB2 gene, or a next-generation sequencing (NGS) test to analyze multiple genes associated with hearing loss. NGS genetic DNA testing is a powerful tool that can provide a comprehensive analysis of an individual's genetic makeup, helping to identify the underlying cause of hearing loss.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test for GJB2 gene deafness in India can vary depending on the testing provider and the specific tests ordered. However, on average, the cost of an NGS genetic DNA test for GJB2 gene deafness is around INR 20,000. This cost may include the initial consultation with a genetic counselor or healthcare provider, the DNA sample collection kit, and the laboratory analysis.

Conclusion

GJB2 gene deafness is a genetic disorder that can cause mild to profound hearing loss. Symptoms may include difficulty hearing speech or sounds, frequent ear infections, tinnitus, and delayed speech development in children. Diagnosis typically involves a combination of physical examination, hearing tests, and genetic testing, including NGS genetic DNA testing. The cost of an NGS genetic DNA test for GJB2 gene deafness in India is around INR 20,000. Early diagnosis and intervention can help individuals with GJB2 gene deafness to manage their symptoms and improve their quality of life.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for GJB2 gene deafness. Our team of experienced genetic counselors and healthcare providers can help you understand your test results and develop a personalized treatment plan. Contact us today to learn more about our genetic testing services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GJB2 Gene Deafness, autosomal recessive type 1A NGS Genetic DNA Test