Short Description

NGS genetic DNA test detecets for variant and mutation detection in GJB2 gene for Deafness with keratopachydermia and constrictions of fingers and toes

PreTest Information

Clinical History of Patient who is going for GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test gene GJB2

Detail Description

GJB2 Gene Deafness with Keratopachydermia and Constrictions of Fingers and Toes NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Deafness is a condition that affects millions of people worldwide. It can be caused by a variety of factors, including genetics. One genetic cause of deafness is the GJB2 gene. When mutations occur in this gene, it can lead to a condition known as GJB2 gene deafness with keratopachydermia and constrictions of fingers and toes. In this blog, we will discuss this condition, its symptoms, diagnosis, and the cost of NGS genetic DNA testing for it in India.

Symptoms

GJB2 gene deafness with keratopachydermia and constrictions of fingers and toes is a rare condition. As the name suggests, it is characterized by deafness, thickening of the skin on the palms and soles (keratopachydermia), and constrictions of the fingers and toes. The skin on the palms and soles may become so thick that it cracks and bleeds. The constrictions of the fingers and toes can be severe, causing deformities and limiting mobility.

In addition to these primary symptoms, people with GJB2 gene deafness with keratopachydermia and constrictions of fingers and toes may experience other symptoms. These can include:

• Delayed development of motor skills
• Intellectual disability
• Abnormal curvature of the spine (scoliosis)
• Abnormal curvature of the fingers and toes (camptodactyly)
• Small stature

Diagnosis

Diagnosing GJB2 gene deafness with keratopachydermia and constrictions of fingers and toes can be challenging. The condition is rare, and its symptoms can be mistaken for those of other conditions. A diagnosis is typically made through a combination of physical examination, medical history, and genetic testing.

Genetic testing is the most definitive way to diagnose GJB2 gene deafness with keratopachydermia and constrictions of fingers and toes. Next-generation sequencing (NGS) genetic DNA testing is a type of genetic testing that can identify mutations in the GJB2 gene. It is a highly accurate and reliable test that can provide a definitive diagnosis.

Cost of NGS Genetic DNA Testing in India

The cost of NGS genetic DNA testing for GJB2 gene deafness with keratopachydermia and constrictions of fingers and toes in India is typically around INR 20,000. This cost may vary depending on the laboratory and the specific tests performed.

NGS genetic DNA testing for GJB2 gene deafness with keratopachydermia and constrictions of fingers and toes is available at a number of laboratories throughout India. Patients should consult with their healthcare provider to determine which laboratory is best suited for their needs.

Conclusion

GJB2 gene deafness with keratopachydermia and constrictions of fingers and toes is a rare genetic condition that can cause deafness, thickening of the skin on the palms and soles, and constrictions of the fingers and toes. Diagnosis can be challenging, but NGS genetic DNA testing is a highly accurate and reliable way to identify mutations in the GJB2 gene. The cost of NGS genetic DNA testing for this condition in India is typically around INR 20,000. Patients should consult with their healthcare provider to determine the best course of action if they suspect they may have this condition.

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 with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test