Short Description

NGS genetic DNA test detecets for variant and mutation detection in PNPT1 gene for Deafness, autosomal recessive type 70

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 GJB11

Detail Description

PNPT1 Gene Deafness: Autosomal Recessive Type 70 NGS Genetic DNA Test Cost INR 20,000 – Symptoms, Diagnosis

Deafness is a common problem affecting millions of people worldwide. There are different types of deafness, including congenital and acquired deafness. One of the genetic causes of deafness is the PNPT1 gene mutation, which is associated with autosomal recessive type 70 (DFNB70) deafness. DNA Labs India offers a comprehensive NGS genetic DNA test for diagnosing PNPT1 gene deafness, which costs INR 20,000.

What is PNPT1 Gene Deafness?

PNPT1 gene deafness is a type of genetic deafness that is caused by mutations in the PNPT1 gene. This gene provides instructions for making a protein called PNPase, which is involved in the metabolism of RNA. When mutations occur in the PNPT1 gene, the PNPase protein is not produced correctly, leading to the death of hair cells in the inner ear, which are responsible for hearing.

Autosomal Recessive Type 70 (DFNB70) Deafness

DFNB70 deafness is an autosomal recessive type of deafness that is caused by mutations in the PNPT1 gene. Autosomal recessive means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. DFNB70 deafness is a rare form of deafness, accounting for only a small percentage of all genetic deafness cases.

PNPT1 Gene Deafness Symptoms

The symptoms of PNPT1 gene deafness are similar to those of other types of genetic deafness. These include:

• Difficulty hearing sounds at normal volumes
• Difficulty distinguishing between sounds
• Trouble understanding speech, especially in noisy environments
• Ringing in the ears (tinnitus)
• Ear infections
• Balance problems

PNPT1 Gene Deafness Diagnosis

The diagnosis of PNPT1 gene deafness is done through a genetic DNA test, which can detect mutations in the PNPT1 gene. This test is performed using NGS (next-generation sequencing) technology, which allows for the detection of multiple genes simultaneously, making it more efficient and accurate than traditional genetic tests. The cost of the PNPT1 gene deafness NGS genetic DNA test is INR 20,000.

Conclusion

PNPT1 gene deafness is a rare form of genetic deafness that is caused by mutations in the PNPT1 gene. It is diagnosed through a genetic DNA test, which can detect mutations in the gene using NGS technology. DNA Labs India offers a comprehensive PNPT1 gene deafness NGS genetic DNA test, which costs INR 20,000. If you or a loved one is experiencing symptoms of deafness, it is important to seek medical attention and consider genetic testing to determine the underlying cause.

For more information or to schedule an appointment for the PNPT1 gene deafness NGS genetic DNA test, contact DNA Labs India today.